Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



ACAD8 Gene

protein-coding   GIFtS: 68
GCID: GC11P134123

Acyl-CoA Dehydrogenase Family, Member 8

(Previous names: acyl-Coenzyme A dehydrogenase family, member 8)
  See ACAD8-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
Acyl-CoA Dehydrogenase Family, Member 81 2     Isobutyryl-CoA Dehydrogenase, Mitochondrial2
Acyl-Coenzyme A Dehydrogenase Family, Member 81 2     EC 1.3.99.-3
Activator-Recruited Cofactor 42 KDa Component2 3     IBD3
ACAD-82 3     Acyl-CoA Dehydrogenase Family Member 83
ARC422 3     EC 1.3.998

External Ids:    HGNC: 871   Entrez Gene: 270342   Ensembl: ENSG000001514987   OMIM: 6047735   UniProtKB: Q9UKU73   

Export aliases for ACAD8 gene to outside databases

Previous GC identifers: GC11P136620 GC11P135638 GC11P134156 GC11P133661 GC11P133628 GC11P130078


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

Entrez Gene summary for ACAD8 Gene:
This gene encodes a member of the acyl-CoA dehydrogenase family of enzymes that catalyze the dehydrogenation of
acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids. The encoded protein is a
mitochondrial enzyme that functions in catabolism of the branched-chain amino acid valine. Defects in this gene
are the cause of isobutyryl-CoA dehydrogenase deficiency.(provided by RefSeq, Nov 2009)

GeneCards Summary for ACAD8 Gene:
ACAD8 (acyl-CoA dehydrogenase family, member 8) is a protein-coding gene. Diseases associated with ACAD8 include isobutyryl-coa dehydrogenase deficiency, and mental retardation and microcephaly with pontine and cerebellar hypoplasia. GO annotations related to this gene include flavin adenine dinucleotide binding. An important paralog of this gene is ACADL.

UniProtKB/Swiss-Prot: ACAD8_HUMAN, Q9UKU7
Function: Has very high activity toward isobutyryl-CoA. Is an isobutyryl-CoA dehydrogenase that functions in
valine catabolism. Plays a role in transcriptional coactivation within the ARC complex

Gene Wiki entry for ACAD8 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000011.9  NT_033899.9  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ACAD8 gene promoter:
         TBP   AhR   RREB-1   Evi-1   Arnt   COMP1   TFIID   c-Myb   Pax-4a   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidACAD8 promoter sequence
   Search Chromatin IP Primers for ACAD8

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ACAD8


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q25   Ensembl cytogenetic band:  11q25   HGNC cytogenetic band: 11q25

ACAD8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACAD8 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P134123:  view genomic region     (about GC identifiers)

Start:
134,123,389 bp from pter      End:
134,135,749 bp from pter
Size:
12,361 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: ACAD8_HUMAN, Q9UKU7 (See protein sequence)
Recommended Name: Isobutyryl-CoA dehydrogenase, mitochondrial precursor  
Size: 415 amino acids; 45070 Da
Cofactor: FAD
Subunit: Homotetramer, formed by a dimer of dimers. Subunit of the large multiprotein complex ARC/DRIP
1 PDB 3D structure from and Proteopedia for ACAD8:
1RX0 (3D)    
Secondary accessions: Q9BUS8

Explore the universe of human proteins at neXtProt for ACAD8: NX_Q9UKU7

Explore proteomics data for ACAD8 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys80
  • Modification sites at PhosphoSitePlus
  • 3 DME Specific Peptides for ACAD8 (Q9UKU7)
     GGYGYLKDY  LTEPGSGSDA  TPGLSFGKKE 


    See ACAD8 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_055199.1  
    ENSEMBL proteins: 
     ENSP00000281182   ENSP00000431532   ENSP00000431310   ENSP00000363884   ENSP00000434193  
     ENSP00000438302   ENSP00000443763  
    Reactome Protein details: Q9UKU7

    ACAD8 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for ACAD8
    OriGene Protein Over-expression Lysate for ACAD8
    OriGene MassSpec for ACAD8
    OriGene Custom Protein Services for ACAD8
    GenScript Custom Purified and Recombinant Proteins Services for ACAD8
    Novus Biologicals ACAD8 Proteins
    Novus Biologicals ACAD8 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for ACAD8
    Cloud-Clone Corp. Proteins for ACAD8

     
    Search eBioscience for Proteins for ACAD8 

    ACAD8 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for ACAD8
    OriGene Custom Antibody Services for ACAD8
    Novus Biologicals ACAD8 Antibodies
    Abcam antibodies for ACAD8
    Cloud-Clone Corp. Antibodies for ACAD8
    ThermoFisher Antibodies for ACAD8
    LSBio Antibodies in human, mouse, rat for ACAD8

    ACAD8 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for ACAD8
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ACAD8
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ACAD8
    Cloud-Clone Corp. CLIAs for ACAD8
    Search eBioscience for ELISAs for ACAD8 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    5 InterPro protein domains:
     IPR013786 AcylCoA_DH/ox_N
     IPR006091 Acyl-CoA_Oxase/DH_cen-dom
     IPR006089 Acyl-CoA_DH_CS
     IPR009100 AcylCoA_DH/oxidase_NM_dom
     IPR009075 AcylCo_DH/oxidase_C

    Graphical View of Domain Structure for InterPro Entry Q9UKU7

    ProtoNet protein and cluster: Q9UKU7

    1 Blocks protein domain: IPB006089 Acyl-CoA dehydrogenase

    UniProtKB/Swiss-Prot: ACAD8_HUMAN, Q9UKU7
    Similarity: Belongs to the acyl-CoA dehydrogenase family


    Find genes that share domains with ACAD8           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ACAD8_HUMAN, Q9UKU7
    Function: Has very high activity toward isobutyryl-CoA. Is an isobutyryl-CoA dehydrogenase that functions in
    valine catabolism. Plays a role in transcriptional coactivation within the ARC complex
    Catalytic activity: Isobutyryl-CoA + ETF = methylacrylyl-CoA + reduced ETF

         Genatlas biochemistry entry for ACAD8:
    acyl-CoA dehydrogenase family,member 8

         Enzyme Numbers (IUBMB): EC 1.3.992 EC 1.3.99.-1

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003995acyl-CoA dehydrogenase activity EXP--
    GO:0016491oxidoreductase activity ----
    GO:0016627oxidoreductase activity, acting on the CH-CH group of donors ----
    GO:0050660flavin adenine dinucleotide binding IEA--
         
    Find genes that share ontologies with ACAD8           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ACAD8
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ACAD8

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ACAD8
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ACAD8

    miRNA
    Products:
        
    miRTarBase miRNAs that target ACAD8:
    hsa-let-7a-5p (MIRT052639)

    Block miRNA regulation of human, mouse, rat ACAD8 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate ACAD8:
    hsa-miR-433
    SwitchGear 3'UTR luciferase reporter plasmidACAD8 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ACAD8
    Predesigned siRNA for gene silencing in human, mouse, rat ACAD8

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ACAD8

    Clone
    Products:
         
    OriGene clones in human, mouse for ACAD8 (see all 8)
    OriGene ORF clones in mouse, rat for ACAD8
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ACAD8 (NM_014384)
    Sino Biological Human cDNA Clone for ACAD8
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACAD8
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACAD8

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for ACAD8
    Browse ESI BIO Cell Lines and PureStem Progenitors for ACAD8 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACAD8


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    ACAD8_HUMAN, Q9UKU7: Mitochondrion
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol2

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005759mitochondrial matrix TAS--

    Find genes that share ontologies with ACAD8           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus

    SuperPaths for ACAD8 About    
    See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    2Valine, leucine and isoleucine degradation
    Valine, leucine and isoleucine degradation0.31
    valine degradation I0.00
    3Metabolism of amino acids and derivatives
    Branched-chain amino acid catabolism0.00
    Metabolism of amino acids and derivatives


    Find genes that share SuperPaths with ACAD8           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for ACAD8
        valine degradation I


    1 Reactome Pathway for ACAD8
        Branched-chain amino acid catabolism


    2 Kegg Pathways  (Kegg details for ACAD8):
        Valine, leucine and isoleucine degradation
    Metabolic pathways

    UniProtKB/Swiss-Prot: ACAD8_HUMAN, Q9UKU7
    Pathway: Amino-acid degradation; L-valine degradation

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ACAD8
    Interactions:

        Search GeneGlobe Interaction Network for ACAD8

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    Selected Interacting proteins for ACAD8 (Q9UKU73 ENSP000002811824) via UniProtKB, MINT, STRING, and/or I2D (see all 12)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    TSG101Q998163, ENSP000002519684I2D: score=1 STRING: ENSP00000251968
    ETS1P149213I2D: score=1 
    BCKDHBENSP000003183514STRING: ENSP00000318351
    DLDENSP000002054024STRING: ENSP00000205402
    ECHS1ENSP000003575354STRING: ENSP00000357535
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated IEA--
    GO:0006574valine catabolic process IEA--
    GO:0006629lipid metabolic process TAS10524212
    GO:0008152metabolic process ----

    Find genes that share ontologies with ACAD8           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ACAD8

    Selected HMDB Compounds for ACAD8 (see all 37)    About this table
    CompoundSynonyms CAS #PubMed Ids
    (2E)-Decenoyl-CoA(E)-S-2-decenoate Coenzyme A (see all 15)10018-95-8--
    (2E)-Dodecenoyl-CoA2-trans-Dodecenoyl-Coenzyme A (see all 4)1066-12-2--
    (2E)-Hexadecenoyl-CoAtrans-2-Hexadecenoyl-CoA (see all 4)4460-95-1--
    (2E)-Octenoyl-CoA(E)-S-2-octenoate Coenzyme A (see all 16)10018-94-7--
    (2E)-Tetradecenoyl-CoA(2E)-Tetradecenoyl-Coenzyme A (see all 8)38795-33-4--
    2-Methylbutyryl-CoA2-methylbutanoyl-CoA (see all 11)6712-02-3--
    2-Methylhexanoyl-CoA2-Methylhexanoyl-CoEnzyme A (see all 5)----
    3Z-dodecenoyl-CoAS-[2-[3-[[(2R)-4-[[[(2R,3R,5R)-5-(6-aminopurin-9-yl)-4-hydroxy-3-phosphonooxyoxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-hydroxyphosphoryl]oxy-2-hydroxy-3,3-dimethylbutanoyl]amino]propanoylamino]ethyl] (Z)-dodec-3-enethioate (see all 4)2152-91-2--
    3a,7a,12a,24-Tetrahydroxy-5b-cholestanoyl-CoA3alpha,7alpha,12alpha,24zeta-Tetrahydroxy-5beta-cholestanoyl-CoA (see all 10)----
    3a,7a,12a-Trihydroxy-5b-cholestanoyl-CoA3a,7a,12a-Trihydroxy-5b-cholestan-26-oyl-CoA (see all 28)57458-60-3--

    2 DrugBank Compounds for ACAD8    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Flavin-Adenine Dinucleotide-- 146-14-5target--17139284 17016423
    Methacrylyl-Coenzyme A-- 6008-91-9target--17139284 17016423

    7 Novoseek inferred chemical compound relationships for ACAD8 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    2-methylbutyryl-coa 94.3 1 16602099 (1)
    butyrylcarnitine 93.7 2 17304052 (1), 12736383 (1)
    acyl-coa 82.2 7 17304052 (3), 16602099 (1), 14752098 (1), 12736383 (1) (see all 5)
    valine 72.3 7 9889013 (2), 17304052 (1), 12359132 (1), 16857760 (1) (see all 5)
    s-adenosylmethionine 67.8 2 17304052 (1), 12736383 (1)
    carnitine 60.9 1 17304052 (1)
    isoleucine 54 1 9889013 (1)



    Find genes that share compounds with ACAD8           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for ACAD8 gene: 
    NM_014384.2  

    Unigene Cluster for ACAD8:

    Acyl-CoA dehydrogenase family, member 8
    Hs.14791  [show with all ESTs]
    Unigene Representative Sequence: AB209538
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000281182(uc001qhk.3 uc001qhl.3) ENST00000526026 ENST00000524426
    ENST00000534433 ENST00000374752 ENST00000525961 ENST00000530533 ENST00000534240
    ENST00000533387(uc010sco.1 uc010scr.1 uc009zde.1) ENST00000527082(uc009zdc.3)
    ENST00000524547 ENST00000531338 ENST00000528325 ENST00000527665 ENST00000527713
    ENST00000524739 ENST00000524502 ENST00000543332(uc010scp.1)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat ACAD8 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate ACAD8:
    hsa-miR-433
    SwitchGear 3'UTR luciferase reporter plasmidACAD8 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for ACAD8
    Predesigned siRNA for gene silencing in human, mouse, rat ACAD8
    Clone
    Products:
         
    OriGene clones in human, mouse for ACAD8 (see all 8)
    OriGene ORF clones in mouse, rat for ACAD8
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ACAD8 (NM_014384)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACAD8
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACAD8
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for ACAD8
    OriGene qSTAR qPCR primer pairs in human, mouse for ACAD8
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ACAD8
      QuantiTect SYBR Green Assays in human, mouse, rat ACAD8
      QuantiFast Probe-based Assays in human, mouse, rat ACAD8

    Additional mRNA sequence: 

    AB209538.1 AF126245.1 AK000359.1 AK026243.1 AK074640.1 AK124235.1 AK125373.1 AK299492.1 
    AK299795.1 AK301518.1 AK301921.1 AK303569.1 AK309051.1 AK309838.1 AK315980.1 BC001964.1 

    9 DOTS entries:

    DT.415404  DT.101981920  DT.415405  DT.92423760  DT.75181764  DT.95260928  DT.95328067  DT.95150393 
    DT.91727693 

    Selected AceView cDNA sequences (see all 151):

    AK000359 AW732176 AK124235 BI918226 CA448524 BQ182776 BM983096 CR608679 
    AA282273 BC001964 BU183735 CA424605 BF725033 BU147345 BP356432 AI239822 
    BP365763 AA348131 AI080116 AA046179 AA333159 BF440034 AI361914 N67184 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ACAD8 (see all 14)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c · 4d ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12a ·
    SP1:                                                        -     -                             -                 -                                         -   
    SP2:                                                        -     -                             -                 -                                             
    SP3:                                      -     -     -     -     -     -     -                 -                 -                                         -   
    SP4:                                      -     -     -     -     -                             -                                                           -   
    SP5:                                                                                            -                 -                                         -   

    ExUns: 12b ^ 13 ^ 14a · 14b · 14c ^ 15
    SP1:  -           -     -     -         
    SP2:                                    
    SP3:  -           -     -     -         
    SP4:  -           -     -     -         
    SP5:  -                                 


    ECgene alternative splicing isoforms for ACAD8

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    ACAD8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTAAGAAGCC
    ACAD8 Expression
    About this image


    ACAD8 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Thymus (Hematopoietic System)
             Thymus
     
     Kidney (Urinary System)
             Metanephros
     
     Eye (Sensory Organs)
             Lens
    ACAD8 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ACAD8 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.14791

    UniProtKB/Swiss-Prot: ACAD8_HUMAN, Q9UKU7
    Tissue specificity: Detected at comparable levels in all tissues examined (heart, lung, brain, skeletal muscle,
    pancreas and placenta). Weakly expressed in liver and kidney

        Custom PCR Arrays for ACAD8
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for ACAD8
    OriGene qSTAR qPCR primer pairs in human, mouse for ACAD8
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ACAD8
    QuantiTect SYBR Green Assays in human, mouse, rat ACAD8
    QuantiFast Probe-based Assays in human, mouse, rat ACAD8
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACAD8

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for ACAD8 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Acad81 , 5 acyl-Coenzyme A dehydrogenase family, member 81, 5 86.86(n)1
    90.02(a)1
      9 (12.00 cM)5
    669481  NM_025862.21  NP_080138.21 
     269741355 
    chicken
    (Gallus gallus)
    Aves ACAD81 acyl-CoA dehydrogenase family, member 8 79.16(n)
    83.98(a)
      419739  NM_001278061.1  NP_001264990.1 
    lizard
    (Anolis carolinensis)
    Reptilia ACAD86
    acyl-CoA dehydrogenase family, member 8
    75(a)
    1 ↔ 1
    GL343396.1(832456-841218)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC643782 hypothetical protein MGC64378 74.36(n)    BC056845.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc558742 similar to acyl-Coenzyme A dehydrogenase family, member more 75.91(n)   394130  BC044203.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F28A10.63
    acdh-91
    acyl-coA dehydrogenase3
    acdh-91
    58(a)3
    58(n)1
    59.09(a)1
      II(846977-848606)3
    1734661  NM_061431.31  NP_493832.11 


    ENSEMBL Gene Tree for ACAD8 (if available)
    TreeFam Gene Tree for ACAD8 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for ACAD8 gene
    ACADL2  ACADSB2  GCDH2  ACAD112  ACADS2  ACAD92  ACADM2  ACAD102  
    IVD2  ACADVL2  
    9 SIMAP similar genes for ACAD8 using alignment to 8 protein entries:     ACAD8_HUMAN (see all proteins):
    ACADS    IVD    ACADM    DKFZp686M24262    ACAD9    ACADSB
    ACADL    GCDH    ACADVL

    Find genes that share paralogs with ACAD8           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for ACAD8 (see all 379)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0350734
    Isobutyryl-CoA dehydrogenase deficiency (IBDD)4--see VAR_0350732 G R mis40--------
    VAR_0350774
    Isobutyryl-CoA dehydrogenase deficiency (IBDD)4--see VAR_0350772 A T mis40--------
    VAR_0350714
    Isobutyryl-CoA dehydrogenase deficiency (IBDD)4--see VAR_0350712 M I mis40--------
    VAR_0350764
    Isobutyryl-CoA dehydrogenase deficiency (IBDD)4--see VAR_0350762 R Q mis40--------
    VAR_0350784
    Isobutyryl-CoA dehydrogenase deficiency (IBDD)4--see VAR_0350782 R C mis40--------
    VAR_0350794
    Isobutyryl-CoA dehydrogenase deficiency (IBDD)4--see VAR_0350792 Q R mis40--------
    VAR_0350724
    Isobutyryl-CoA dehydrogenase deficiency (IBDD)4--see VAR_0350722 D Y mis40--------
    VAR_0350754
    Isobutyryl-CoA dehydrogenase deficiency (IBDD)4--see VAR_0350752 V I mis40--------
    VAR_0350744
    Isobutyryl-CoA dehydrogenase deficiency (IBDD)4--see VAR_0350742 M T mis40--------
    rs1219084221,2
    Cpathogenic1133999344(+) TGTCCG/AGAAGC 2 /Q /R mis11Minor allele frequency- A:0.00EU 1323

    HapMap Linkage Disequilibrium report for ACAD8 (134123389 - 134135749 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for ACAD8:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2745324CNV Deletion23290073
    nsv898474CNV Loss21882294
    nsv832299CNV Loss17160897
    nsv521581CNV Gain19592680
    nsv898475CNV Gain21882294

    Human Gene Mutation Database (HGMD): ACAD8
    Locus Specific Mutation Databases (LSDB): ACAD8

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ACAD8
    DNA2.0 Custom Variant and Variant Library Synthesis for ACAD8

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 604773   
    OMIM disorders: 611283  
    UniProtKB/Swiss-Prot: ACAD8_HUMAN, Q9UKU7
  • Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]: The symptoms of IBDD generally appear until
    late in infancy or in childhood and can include poor feeding and growth (failure to thrive), a weakened and
    enlarged heart (dilated cardiomyopathy), seizures, and low numbers of red blood cells (anemia). Note=The disease
    is caused by mutations affecting the gene represented in this entry

  • 2 diseases for ACAD8:    
    About MalaCards
    isobutyryl-coa dehydrogenase deficiency    mental retardation and microcephaly with pontine and cerebellar hypoplasia


    Find genes that share disorders with ACAD8           About GenesLikeMe

    Genetic Association Database (GAD): ACAD8
    Human Genome Epidemiology (HuGE) Navigator: ACAD8 (2 documents)

    Export disorders for ACAD8 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    TryGeneCards Plus

    PubMed articles for ACAD8 gene, integrated from 10 sources (see all 24):
    (articles sorted by number of sources associating them with ACAD8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation and characterisation of a cDNA encoding the precursor for a novel member of the acyl-CoA dehydrogenase gene family. (PubMed id 10524212)1, 2, 3 Telford E.A.R.... Lench N.J. (Biochim. Biophys. Acta 1999)
    2. Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans. (PubMed id 12359132)1, 2, 9 Nguyen T.V....Vockley J. (Mol. Genet. Metab. 2002)
    3. Structures of isobutyryl-CoA dehydrogenase and enzyme-product complex: comparison with isovaleryl- and short-chain acyl-CoA dehydrogenases. (PubMed id 14752098)1, 2, 9 Battaile K.P.... Kim J.-J.P. (J. Biol. Chem. 2004)
    4. Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolism. (PubMed id 11013134)1, 2, 9 Andresen B.S.... Skovby F. (Am. J. Hum. Genet. 2000)
    5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    6. Association study of cholesterol-related genes in Alzheimer's disease. (PubMed id 17387528)1, 4 Wollmer M.A....Papassotiropoulos A. (Neurogenetics 2007)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. Composite co-activator ARC mediates chromatin-directed transcriptional activation. (PubMed id 10235267)1, 2 Naeaer A.M....Tjian R. (Nature 1999)
    10. Isobutyryl-CoA dehydrogenase deficiency: isobutyrylglycinuria and ACAD8 gene mutations in two infants. (PubMed id 15505379)2, 9 Sass J.O.... Zschocke J. (J. Inherit. Metab. Dis. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 27034 HGNC: 87 AceView: ACAD8 Ensembl:ENSG00000151498 euGenes: HUgn27034
    ECgene: ACAD8 Kegg: 27034 H-InvDB: ACAD8

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for ACAD8 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ACAD8[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for ACAD8 gene:
    Search GeneIP for patents involving ACAD8

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for ACAD8   OriGene RNAi products in human, mouse, rat for ACAD8  
     OriGene qPCR primer pairs and template standards for ACAD8   OriGene Protein Over-expression Lysate for ACAD8  
     OriGene MassSpec something-or-other for ACAD8   OriGene clones in human, mouse for ACAD8  
     OriGene qSTAR qPCR primer pairs in human, mouse for ACAD8   OriGene Purified Protein for ACAD8  
     OriGene ORF clones in mouse, rat for ACAD8   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for ACAD8   OriGene Custom Protein Services for ACAD8  

     
     
     Block miRNA regulation of human, mouse, rat ACAD8 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing ACAD8
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ACAD8 Predesigned siRNA for gene silencing in human, mouse, rat ACAD8
     QuantiFast Probe-based Assays in human, mouse, rat ACAD8 QuantiTect SYBR Green Assays in human, mouse, rat ACAD8
     Custom PCR Arrays for ACAD8 Search Chromatin IP Primers for ACAD8
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ACAD8  Search GeneGlobe Interaction Network for ACAD8
     Regulatory tfbs in ACAD8 promoter
     GenScript Custom Purified and Recombinant Proteins Services for ACAD8 GenScript cDNA clones with any tag delivered in your preferred vector for ACAD8
     GenScript Custom Assay Services for ACAD8 GenScript Custom overexpressing Cell Line Services for ACAD8
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for ACAD8
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     cDNA Clones for ACAD8
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     ACAD8 antibodies
     ACAD8 proteins
     ACAD8 lysates
     Antibodies for ACAD8
     See all of Abcam's Antibodies, Kits and Proteins for ACAD8
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Recombinant Protein for ACAD8
     Proteins for ACAD8
     Antibodies for ACAD8
     ELISAs for ACAD8
     CLIAs for ACAD8



     Browse ESI BIO Cell Lines and PureStem Progenitors for ACAD8
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACAD8
     SwitchGear 3'UTR luciferase reporter plasmids for ACAD8
     SwitchGear Promoter luciferase reporter plasmids for ACAD8
     ThermoFisher Antibodies for ACAD8
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACAD8
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ACAD8
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ACAD8
     LSBio Antibodies in human, mouse, rat for ACAD8
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
     Search Addgene for plasmids for ACAD8
      Search eBioscience for proteins for ACAD8
      Search eBioscience for elisas for ACAD8
      eBioscience FlowRNA Probe Sets
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      ACAD8 gene at Home site.
    Version: 3.12.212 17 Sep 2014
    hostname: 356980-web2.xennexinc.com index build: 128 solr: 1.4