Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol ACAD9 contributors: mct - updated : 11-06-2013
HGNC name acyl-Coenzyme A dehydrogenase family, member 9
HGNC id 21497
Corresponding disease
ACAD9D Acyl-CoA dehydrogenase 9 deficiency
Location 3q21.3      Physical location : 128.598.332 - 128.631.956
Synonym name
  • acyl-CoA dehydrogenase 9
  • very-long-chain acyl-CoA dehydrogenase VLCAD
  • Synonym symbol(s) ACAD-9, NPD002, MGC14452, FLJ23533
    EC.number 1.3.99.-
    DNA
    TYPE functioning gene
    SPECIAL FEATURE head to head
    STRUCTURE 33.50 kb     18 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site
    text structure two evolutionarily highly conserved regions, each with duplicated sequences homologous to nuclear respiratory factor 1 (NRF-1) and cAMP-responsive element transcription-factor binding sites (CREB)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - - 1872 - - - He
    intron 21 and exon 22 overlap an unrelated gene, KIAA1257
    - - 2485 - 621 - He
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouth   highly
    Endocrineadrenal gland   highly
    Lymphoid/Immunespleen   highly
    Nervousbrain   highly
     spinal cord    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier liningretinal pigment epithelium (RPE)   Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Endocrineislet cell (alpha,beta...)
    Nervousneuron
    Visualcone photoreceptor Homo sapiens
    Visualganglion cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
  • mitochondrial acyl-CoA dehydrogenase protein family
  • CATEGORY enzyme , transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,nucleus
    basic FUNCTION
  • involved in electron transport
  • long-chain acyl-CoA dehydrogenase in embryonic and fetal central nervous tissue, that may play a role in the turnover of lipid membrane unsaturated fatty acids essential for membrane integrity and structure
  • playing a role in the mitochondrial beta-oxidation of long-chain unsaturated fatty acids
  • playing a possible role in the recycling of complex neural lipids and production of intermediate metabolites for synthetic pathways
  • role for ACAD9 in oxidative phosphorylation
  • new function in complex I function, making this gene an important new candidate for patients with complex I deficiency, which could be improved by riboflavin treatment
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS electron transport
    PATHWAY
    metabolism
    signaling
    a component
  • TMEM126B forms a complex with other assembly factors: NDUFAF1, ACAD9, and ECSIT
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binds complex I assembly factors NDUFAF1 and ECSIT and is specifically required for the assembly of complex I
  • TIMMDC1 reciprocally associate with multiple components of the ECSIT-TMEM126B-ACAD9-NDUFAF1 assembly factor complex (MCIA complex), as well as subunits of the soluble and matrix arms
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ACAD9D
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS