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ACAD9 Gene

protein-coding   GIFtS: 57
GCID: GC03P129047

Acyl-CoA Dehydrogenase Family, Member 9

(Previous names: acyl-Coenzyme A dehydrogenase family, member 9)
  See ACAD9-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)
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Aliases
Acyl-CoA Dehydrogenase Family, Member 91 2     ACAD-93
Acyl-Coenzyme A Dehydrogenase Family, Member 91 2     EC 1.3.99.-3
NPD0022     EC 1.3.998
Acyl-CoA Dehydrogenase Family Member 9, Mitochondrial2     EC 1.3.99.108
Very-Long-Chain Acyl-CoA Dehydrogenase VLCAD2     

External Ids:    HGNC: 214971   Entrez Gene: 289762   Ensembl: ENSG000001776467   OMIM: 6111035   UniProtKB: Q9H8453   

Export aliases for ACAD9 gene to outside databases

Previous GC identifers: GC03P129880 GC03P129919 GC03P130081 GC03P128599 GC03P125986 GC03P128600 GC03P128671 GC03P128848 GC03P128931


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ACAD9 Gene:
This gene encodes a member of the acyl-CoA dehydrogenase family. Members of this family of proteins localize to
the mitochondria and catalyze the rate-limiting step in the beta-oxidation of fatty acyl-CoA. The encoded protein
is specifically active toward palmitoyl-CoA and long-chain unsaturated substrates. Mutations in this gene cause
acyl-CoA dehydrogenase family member type 9 deficiency. Alternate splicing results in multiple transcript
variants.(provided by RefSeq, Mar 2010)

GeneCards Summary for ACAD9 Gene:
ACAD9 (acyl-CoA dehydrogenase family, member 9) is a protein-coding gene. Diseases associated with ACAD9 include acad9 deficiency, and acyl-coa dehydrogenase 9 deficiency. GO annotations related to this gene include acyl-CoA dehydrogenase activity and flavin adenine dinucleotide binding. An important paralog of this gene is ACADL.

UniProtKB/Swiss-Prot: ACAD9_HUMAN, Q9H845
Function: Has a dehydrogenase activity on palmitoyl-CoA (C16:0) and stearoyl-CoA (C18:0). It is three times more
active on palmitoyl-CoA than on stearoyl-CoA. Has little activity on octanoyl-CoA (C8:0), butyryl-CoA (C4:0) or
isovaleryl-CoA (5:0)

Gene Wiki entry for ACAD9 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)
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RefSeq DNA sequence at NCBI GenBank:
NC_000003.11  NT_005612.17  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ACAD9 gene promoter:
         Max1   C/EBPbeta   CUTL1   AP-4   Gfi-1   HEN1   Meis-1a   Meis-1   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidACAD9 promoter sequence
   Search Chromatin IP Primers for ACAD9

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ACAD9


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

Entrez Gene cytogenetic band: 3q21.3   Ensembl cytogenetic band:  3q21.3   HGNC cytogenetic band: 3q21.3

ACAD9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACAD9 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P129047:  view genomic region     (about GC identifiers)

Start:
128,598,333 bp from pter      End:
128,634,910 bp from pter
Size:
36,578 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: ACAD9_HUMAN, Q9H845 (See protein sequence)
Recommended Name: Acyl-CoA dehydrogenase family member 9, mitochondrial precursor  
Size: 621 amino acids; 68760 Da
Cofactor: FAD (By similarity)
Subunit: Part of the mitochondrial complex I assembly (MCIA) complex. The complex comprises at least TMEM126B,
NDUFAF1, ECSIT, and ACAD9 (By similarity)
Secondary accessions: D3DNB8 Q8WXX3

Explore the universe of human proteins at neXtProt for ACAD9: NX_Q9H845

Explore proteomics data for ACAD9 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ACAD9 (Q9H845) (see all 5)
     RGSNTCE  LIQEKFA  VLSRASRS  IFTVFAKT 


    See ACAD9 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_054768.2  
    ENSEMBL proteins: 
     ENSP00000422020   ENSP00000312618   ENSP00000427283   ENSP00000426277   ENSP00000425226  
     ENSP00000426189   ENSP00000423758   ENSP00000425346   ENSP00000422683  

    ACAD9 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for ACAD9

     
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    antibodies-online proteins for ACAD9 (2 products) 

     
    antibodies-online peptides for ACAD9

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    MITOAF: Mitochondrial respiratory chain complex assembly factors

    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 Q9H845

    ProtoNet protein and cluster: Q9H845

    1 Blocks protein domain: IPB006089 Acyl-CoA dehydrogenase

    UniProtKB/Swiss-Prot: ACAD9_HUMAN, Q9H845
    Similarity: Belongs to the acyl-CoA dehydrogenase family


    Find genes that share domains with ACAD9           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ACAD9_HUMAN, Q9H845
    Function: Has a dehydrogenase activity on palmitoyl-CoA (C16:0) and stearoyl-CoA (C18:0). It is three times more
    active on palmitoyl-CoA than on stearoyl-CoA. Has little activity on octanoyl-CoA (C8:0), butyryl-CoA (C4:0) or
    isovaleryl-CoA (5:0)

         Enzyme Numbers (IUBMB): EC 1.3.99.102 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 IEA--
    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 ACAD9           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for ACAD9

    miRNA
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    miRTarBase miRNAs that target ACAD9:
    hsa-mir-615-3p (MIRT040112)

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ACAD9_HUMAN, Q9H845: Mitochondrion (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    mitochondrion4
    cytosol2

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005739mitochondrion IDA--
    GO:0030425dendrite IDA--

    Find genes that share ontologies with ACAD9           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).
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    SuperPaths for ACAD9 About    
    See pathways by source

    SuperPathContained pathways About
    1Glucose / Energy Metabolism
    Glucose / Energy Metabolism


    Find genes that share SuperPaths with ACAD9           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for ACAD9
        Glucose / Energy Metabolism


        Pathway & Disease-focused RT2 Profiler PCR Arrays including ACAD9: 
              Fatty Acid Metabolism in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ACAD9

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

    Selected Interacting proteins for ACAD9 (Q9H8452, 3 ENSP000003126184) via UniProtKB, MINT, STRING, and/or I2D (see all 247)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    OTUD7BQ6GQQ93, ENSP000003581314I2D: score=2 STRING: ENSP00000358131
    PMPCBO754392, ENSP000002492694MINT-8079030 STRING: ENSP00000249269
    CAMKK2Q96RR43I2D: score=1 
    AARS2Q5JTZ92MINT-8079030
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008152metabolic process ----
    GO:0055114oxidation-reduction process ----

    Find genes that share ontologies with ACAD9           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)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ACAD9

    Selected HMDB Compounds for ACAD9 (see all 33)    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--
    Acetyl-CoAS-Acetyl coenzyme A (see all 13)72-89-9--
    Acrylyl-CoAAcryloyl coenzyme A (see all 14)5776-58-9--

    2 Novoseek inferred chemical compound relationships for ACAD9 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    acyl-coa 81.7 18 17564966 (3), 16020546 (2), 16750164 (2), 12359260 (1) (see all 5)
    fatty acid 58.8 1 17564966 (1)



    Find genes that share compounds with ACAD9           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 )
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    REFSEQ mRNAs for ACAD9 gene: 
    NM_014049.4  

    Unigene Cluster for ACAD9:

    Acyl-CoA dehydrogenase family, member 9
    Hs.567482  [show with all ESTs]
    Unigene Representative Sequence: NR_033426
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000505602 ENST00000514643 ENST00000308982(uc011bks.2 uc003ela.4)
    ENST00000512801 ENST00000505192(uc010hsw.1) ENST00000511227 ENST00000515429
    ENST00000514336 ENST00000505867(uc003elb.3) ENST00000511526(uc003elc.1 uc003ele.3)
    ENST00000508971 ENST00000511325
    miRNA
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    Additional mRNA sequence: 

    AF078854.1 AF327351.1 AK022568.1 AK024012.1 AK130311.1 AK297952.1 BC001817.2 BC007970.2 
    BC013354.2 BC041572.1 NR_033426.1 

    19 DOTS entries:

    DT.314211  DT.100670444  DT.92442134  DT.100807057  DT.92442137  DT.40225945  DT.100816868  DT.95250432 
    DT.97847826  DT.100816877  DT.91977530  DT.92442141  DT.100657416  DT.120863835  DT.120863867  DT.120863880 
    DT.92020047  DT.95250398  DT.97763702 

    Selected AceView cDNA sequences (see all 295):

    BE295884 BQ938039 BG760511 BC001817 BX281102 BM552756 CR615785 AA745075 
    BQ008227 BC041572 CK823161 BU730138 CF541062 BQ279135 BM797331 AA635874 
    BU196321 AL697650 AA176301 BU167868 BG674212 AW439506 BP357268 BC013354 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ACAD9 (see all 13)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b · 4c · 4d ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12a · 12b ^ 13
    SP1:                                      -     -     -                                               -                                                   
    SP2:                                                                                                  -                                                   
    SP3:              -                       -     -     -                                               -                                                   
    SP4:              -                       -     -     -                                               -                                                   
    SP5:                                                                                                  -                                                   


    ECgene alternative splicing isoforms for ACAD9

    (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

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    ACAD9 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TACCAGGAAC
    ACAD9 Expression
    About this image


    ACAD9 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Eye (Sensory Organs)
             Lens
     
     Neural Tube (Nervous System)
             Telencephalon
     
     Brain (Nervous System)
             Cerebral Cortex
    ACAD9 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ACAD9 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.567482

    UniProtKB/Swiss-Prot: ACAD9_HUMAN, Q9H845
    Tissue specificity: Ubiquitously expressed in most normal human tissues and cancer cell lines with high level of
    expression in heart, skeletal muscles, brain, kidney and liver

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ACAD9: 
              Fatty Acid Metabolism in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat ACAD9
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACAD9

    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for ACAD9 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Acad91 , 5 acyl-Coenzyme A dehydrogenase family, member 91, 5 84.01(n)1
    86.27(a)1
      3 (17.41 cM)5
    2292111  NM_172678.31  NP_766266.31 
     360659795 
    chicken
    (Gallus gallus)
    Aves ACAD91 acyl-CoA dehydrogenase family, member 9 71.07(n)
    74.09(a)
      415974  NM_001006136.2  NP_001006136.1 
    lizard
    (Anolis carolinensis)
    Reptilia ACAD96
    acyl-CoA dehydrogenase family, member 9
    74(a)
    1 ↔ 1
    2(159508664-159532498)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.60572 Xenopus laevis transcribed sequence with weak similarity more 76.01(n)    BU152713.1 
    zebrafish
    (Danio rerio)
    Actinopterygii acad91 acyl-CoA dehydrogenase family, member 9 68.52(n)
    71.21(a)
      724002  NM_001045307.1  NP_001038772.1 


    ENSEMBL Gene Tree for ACAD9 (if available)
    TreeFam Gene Tree for ACAD9 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ACAD9 gene
    ACADL2  ACADSB2  ACAD82  GCDH2  ACAD112  ACADS2  ACADM2  ACAD102  
    IVD2  ACADVL2  
    7 SIMAP similar genes for ACAD9 using alignment to 9 protein entries:     ACAD9_HUMAN (see all proteins):
    ACADVL    ACADSB    ACADS    IVD    ACADM    ACAD8
    ACADL

    Find genes that share paralogs with ACAD9           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)
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    Selected SNPs for ACAD9 (see all 795)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs629013631,2
    C--125984658(+) AATTA-/CTCT  
            
    CTCTC
    2 -- us2k12Minor allele frequency- CTCT:0.25NA CSA 4
    rs283844011,2
    C--125985472(+) CAGAC-/GTGTGTG 2 -- ut51 nc-transcript-variant2Minor allele frequency- GT:0.00CSA 4
    rs2001050431,2
    --125985481(+) GTGTG-/TCCCTGC 2 -- ut51 nc-transcript-variant0--------
    rs1116014971,2
    C--125992745(+) CGCCA-/CTGCAC 2 -- int11Minor allele frequency- C:0.00CSA 2
    rs1135198071,2
    F--125996458(+) CACCTC/TGCCCA 2 -- int11Minor allele frequency- T:0.50CSA 2
    rs1849379411,2
    --125996940(+) TTTTTG/TGAGAC 2 -- int10--------
    rs1451829271,2
    C--125999324(+) TTCTC-/ATGAAGCT 2 -- int10--------
    rs113795271,2
    C--126001313(+) AAAAAA/-GCCAA 2 -- int1 trp32Minor allele frequency- -:0.25NA CSA 4
    rs626937611,2
    C--126001805(+) TGGTC-/CTCTCTCC 2 -- cds1 int10--------
    rs2007049351,2
    --126001806(+) GGTCT-/CCTCCT 2 -- int10--------

    HapMap Linkage Disequilibrium report for ACAD9 (128598333 - 128634910 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for ACAD9:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv877465CNV Gain21882294
    nsv877466CNV Gain21882294

    Human Gene Mutation Database (HGMD): ACAD9
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ACAD9
    DNA2.0 Custom Variant and Variant Library Synthesis for ACAD9

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 611103   
    OMIM disorders: 611126  
    UniProtKB/Swiss-Prot: ACAD9_HUMAN, Q9H845
  • Acyl-CoA dehydrogenase family, member 9, deficiency (ACAD9 deficiency) [MIM:611126]: A metabolic disorder
    with variable manifestations that include dilated cardiomyopathy, liver failure, muscle weakness, neurologic
    dysfunction, hypoglycemia and Reye-like episodes (brain edema and vomiting that may rapidly progress to seizures,
    coma and death). Note=The disease is caused by mutations affecting the gene represented in this entry

  • 4 diseases for ACAD9:    
    About MalaCards
    acad9 deficiency    acyl-coa dehydrogenase 9 deficiency    mental retardation and microcephaly with pontine and cerebellar hypoplasia    mitochondrial complex i deficiency


    Find genes that share disorders with ACAD9           About GenesLikeMe

    1 Novoseek inferred disease relationship for ACAD9 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cancer 0 1 12359260 (1)

    Genetic Association Database (GAD): ACAD9
    Human Genome Epidemiology (HuGE) Navigator: ACAD9 (1 document)

    Export disorders for ACAD9 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)
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    PubMed articles for ACAD9 gene, integrated from 10 sources (see all 28):
    (articles sorted by number of sources associating them with ACAD9)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and functional characterization of ACAD-9, a novel member of human acyl-CoA dehydrogenase family. (PubMed id 12359260)1, 2, 3, 9 Zhang J.... Cao X. (Biochem. Biophys. Res. Commun. 2002)
    2. A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency. (PubMed id 17564966)1, 2, 9 He M.... Vockley J. (Am. J. Hum. Genet. 2007)
    3. Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I. (PubMed id 20816094)1, 3 Nouws J....Vogel R.O. (Cell Metab. 2010)
    4. Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency. (PubMed id 21057504)1, 3 Haack T.B....Prokisch H. (Nat. Genet. 2010)
    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. 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)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. Acyl-CoA dehydrogenase 9 (ACAD 9) is the long-chain acyl-CoA dehydrogenase in human embryonic and fetal brain. (PubMed id 16750164)1, 9 Oey N.A....Wijburg F.A. (Biochem. Biophys. Res. Commun. 2006)
    9. Human acyl-CoA dehydrogenase-9 plays a novel role in the mitochondrial beta-oxidation of unsaturated fatty acids. (PubMed id 16020546)1, 9 Ensenauer R....Vockley J. (J. Biol. Chem. 2005)
    10. Carnitine palmitoyltransferase I and Acyl-CoA dehydrogenase 9 in retina: insights of retinopathy in mitochondrial trifunctional protein defects. (PubMed id 18385088)1, 9 Roomets E....Tyni T. (amp 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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)
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    Entrez Gene: 28976 HGNC: 21497 AceView: ACAD9 Ensembl:ENSG00000177646 euGenes: HUgn28976
    ECgene: ACAD9 H-InvDB: ACAD9

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ACAD9 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ACAD9 gene:
    Search GeneIP for patents involving ACAD9

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



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