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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ACAD8 Gene

protein-coding   GIFtS: 64
GCID: GC11P134123

acyl-CoA dehydrogenase family, member 8

(Previous names: acyl-Coenzyme A dehydrogenase family, member 8 )
 Explore 6 diseases affiliated with
ACAD8 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ACAD8    

Aliases
for ACAD8 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
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


Summaries
for ACAD8 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for ACAD8:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_033899.8  
Regulatory elements:
   SABiosciences 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 plasmid: ACAD8 promoter sequence
   Search SABiosciences Chromatin IP Primers for ACAD8

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for ACAD8 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: Mitochondrion
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UKU7

    • 3 DME Specific Peptides for ACAD8 (Q9UKU7)
     GGYGYLKDY  LTEPGSGSDA  TPGLSFGKKE 

    ACAD8 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_055199.1  
    ENSEMBL proteins: 
     ENSP00000281182   ENSP00000431532   ENSP00000431310   ENSP00000363884   ENSP00000434193  
     ENSP00000438302   ENSP00000443763  
    Reactome Protein details: Q9UKU7
    Human Recombinant Protein Products: 
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    ProSpec Recombinant Protein for ACAD8
    Uscn Proteins for ACAD8

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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


    ACAD8 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for ACAD8 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ACAD8 for domains           About GeneDecksing

    5/7 InterPro domains/families (see all 7):
     IPR006090 Acyl-CoA_Oxase/DH_1
     IPR009100 AcylCoA_DH/oxidase
     IPR013786 AcylCoA_DH/ox_N
     IPR006091 Acyl-CoA_Oxase/DH_cen-dom
     IPR006089 Acyl-CoA_DH_CS

    Graphical View of Domain Structure for InterPro Entry Q9UKU7

    ProtoNet protein and cluster: Q9UKU7

    1 Blocks protein family: IPB006089 Acyl-CoA dehydrogenase

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


    Function
    for ACAD8 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ACAD8
    1 QIAGEN miScript miRNA Assays for microRNA that regulate ACAD8:
    hsa-miR-433
    SwitchGear 3'UTR luciferase reporter plasmid: ACAD8 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003995acyl-CoA dehydrogenase activity EXP--
    GO:0016627oxidoreductase activity, acting on the CH-CH group of donors ----
    GO:0050660flavin adenine dinucleotide binding IEA--


    ACAD8 for ontologies           About GeneDecksing



    Pathways & Interactions
    for ACAD8 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Branched-chain amino acid catabolism
    		Branched-chain amino acid catabolism1.00
    		Valine, leucine and isoleucine degradation0.39
    		valine degradation I0.48
    2Metabolism
    		Metabolism1.00
    		Metabolic pathways0.38
    3Metabolism of amino acids and derivatives
    		Metabolism of amino acids and derivatives1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 BioSystems Pathway for ACAD8 
        valine degradation I

    3        Reactome Pathways for ACAD8
        Metabolism
    Metabolism of amino acids and derivatives
    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


    ACAD8 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ACAD8

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/9 Interacting proteins for ACAD8 (Q9UKU73 ENSP000002811824) via UniProtKB, MINT, STRING, and/or I2D (see all 9)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    TSG101Q998163, ENSP000002519684I2D: score=1 STRING: ENSP00000251968
    ETS1P149213I2D: score=1 
    BCKDHAENSP000002699804STRING: ENSP00000269980
    BCKDHBENSP000003183514STRING: ENSP00000318351
    DLDENSP000002054024STRING: ENSP00000205402
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent IEA--
    GO:0006574valine catabolic process IEA--
    GO:0006629lipid metabolic process TAS10524212
    GO:0009083branched-chain amino acid catabolic process TAS--


    ACAD8 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ACAD8 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ACAD8 for compounds           About GeneDecksing

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

    Browse Tocris compounds for ACAD8

    10/37 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 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)

    Search CenterWatch for drugs/clinical trials and news about ACAD8 

    Transcripts
    for ACAD8 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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
    18/19 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
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    Inhib. RNA
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    Additional cDNA 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 

    24/151 AceView cDNA sequences (see all 151):

    AA622321 BX096292 AI239822 AA046179 BF725033 CA448306 BI918226 CR608679 
    BF440034 BQ182776 AK000359 AI080116 BM983096 CA311222 AI361914 BP356432 
    CA424605 CA448524 AA333159 BU147345 D20772 AK124235 AK074640 H21812 

    GeneLoc Exon Structure

    5/14 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

    Expression
    for ACAD8 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ACAD8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTAAGAAGCC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    ACAD8 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainChoroid PlexusBrain
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See ACAD8 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ACAD8

    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

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    Orthologs
    for ACAD8 gene

    (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
    This gene was present in the common ancestor of animals.

    Orthologs for ACAD8 gene from 5/19 species (see all 19)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves ACAD81 acyl-CoA dehydrogenase family, member 8 79.19(n)
    84.2(a)    		   419739  XM_417879.3  XP_417879.3 
    lizard
    (Anolis carolinensis)    		 Reptilia ACAD86
    		 --
    		 79(a)
    		 1 ↔ 1
    		 GL343396.1(832783-840663)
    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
    Protein ACDH-91    		 58(a)3
    58.27(n)1
    59.54(a)1    		   II(846977-848606)3
    1734661  NM_061431.21  NP_493832.11 


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

    Paralogs
    for ACAD8 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ACAD8 gene
    ACADL2  ACADSB2  ACAD112  GCDH2  ACADS2  ACAD92  ACAD102  ACADM2  
    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

    ACAD8 for paralogs           About GeneDecksing



    Genomic Variants
    for ACAD8 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/273 NCBI SNPs in ACAD8 are shown (see all 273)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 11 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1219084221,2
    		Cpathogenic130085993(+) TGTCCG/AGAAGC 2 /Q /R mis11Minor allele frequency- A:0.00EU 1323
    rs1114126071,2
    		C,--130076423(+) CTCACT/GGTGGC 1 -- us2k12Minor allele frequency- G:0.19CSA WA 119
    rs795497641,2
    		F,--130076727(+) AGATAT/CGAGGT 1 -- us2k11Minor allele frequency- C:0.08WA 118
    rs122788121,2
    		C,F,H,--130077057(+) TAAAAA/CCGACA 1 -- us2k117Minor allele frequency- C:0.06NS EA NA 2144
    rs730439241,2
    		C,--130077179(+) ACTTAA/GCAATC 1 -- us2k10--------
    rs118277281,2
    		C,F,H,--130077640(+) GGAGGC/GAACGA 1 -- us2k16Minor allele frequency- G:0.04NS EA NA WA 504
    rs1123726241,2
    		C,--130078189(+) NNNNCG/ACCAGT 1 -- us2k13Minor allele frequency- A:0.08NA WA 240
    rs714869971,2
    		C,--130078497(+) CCCCCG/CGCCTG 1 -- int11Minor allele frequency- C:0.50NA 2
    rs1125445731,2
    		--130078623(+) CCCGCA/CCCGGT 1 -- int11Minor allele frequency- C:0.00CSA 1
    rs730439291,2
    		C,--130079056(+) TGAACA/GGTAAT 1 -- int10--------

    HapMap Linkage Disequilibrium report for ACAD8 (134123389 - 134135749 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for ACAD8
         1 CNV: 4764
    Human Gene Mutation Database (HGMD): ACAD8

    Locus Specific Mutation Databases (LSDB): ACAD8

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    Disorders / Diseases
    for ACAD8 gene

    (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
    ACAD8 for disorders           About GeneDecksing

    OMIM gene information: 604773   
    OMIM disorders: 611283  
    UniProtKB/Swiss-Prot: ACAD8_HUMAN, Q9UKU7
  • Defects in ACAD8 are the cause of 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)

    6 diseases for ACAD8:    About MalaCards
    acyl-coa dehydrogenase    isobutyryl-coa dehydrogenase deficiency    alzheimer's disease    cholesterol
    tuberculosis    mycobacterium tuberculosis

    Human Genome Epidemiology (HuGE) Navigator: ACAD8 (2 documents)

    Export disorders for ACAD8 gene to outside databases

    Publications
    for ACAD8 gene

    (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

    PubMed articles for ACAD8 gene, integrated from 9 sources (see all 22):
    (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. (1999)
    2. Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans. (PubMed id 12359132)1, 2, 9 Nguyen T.V....Vockley J. (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. (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. (2000)
    5. 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. (2004)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. Composite co-activator ARC mediates chromatin-directed transcriptional activation. (PubMed id 10235267)1, 2 Naeaer A.M....Tjian R. (1999)
    8. Isobutyryl-CoA dehydrogenase deficiency: isobutyrylglycinuria and ACAD8 gene mutations in two infants. (PubMed id 15505379)2, 9 Sass J.O.... Zschocke J. (2004)
    9. Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening. (PubMed id 16857760)2, 9 Pedersen C.B.... Andresen B.S. (2006)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)

    External Searches for ACAD8 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    Genome Databases showing ACAD8 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 27034 HGNC: 87 AceView: ACAD8 Ensembl:ENSG00000151498 euGenes: HUgn27034
    ECgene: ACAD8 Kegg: 27034 H-InvDB: ACAD8

    Other Databases showing ACAD8 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ACAD8 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ACAD8 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ACAD8

    Intellectual Property
    for ACAD8 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for ACAD8 gene:
    Search GeneIP for patents involving ACAD8

    GeneCards and IP:
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