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FLASH GENE
Symbol ACADSB contributors: mct - updated : 18-11-2010
HGNC name acyl-Coenzyme A dehydrogenase, short/branched chain
HGNC id 91
Corresponding disease
ACADSBD 2-methylbutyryl-CoA dehydrogenase deficiency
Location 10q26.13      Physical location : 124.768.428 - 124.817.805
Synonym name
  • 2-methyl branched chain acyl-CoA dehydrogenase
  • 2-methylbutyryl-CoA dehydrogenase
  • Synonym symbol(s) SBCAD, 2-MEBCAD, ACAD7, hSCAD
    EC.number 1.3.99.-
    DNA
    TYPE functioning gene
    STRUCTURE 49.45 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    FGFR2 10q26 fibroblast growth factor receptor 2 (bacteria-expressed kinase, keratinocyte growth factor receptor, craniofacial dysostosis 1, Crouzon syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome) ATE1 10q26.13 arginyltransferase 1 FLJ20003 10q26.13 hypothetical protein FLJ20003 TACC2 10q26 transforming, acidic coiled-coil containing protein 2 FLJ25359 10q26.13 hypothetical protein FLJ25359 PLEKHA1 10q26.3 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1 LOC387715 10 LOC387715 PRSS11 10q25.3-q26.2 protease, serine, 11 (IGF binding) LOC253436 10q26.13 hypothetical LOC253436 LOC390008 10 similar to hensin CUZD1 10q26.13 CUB and zona pellucida-like domains 1 MGC45962 10q26.13 hypothetical protein MGC45962 LOC118670 10q26.13 similar to hypothetical protein MGC45962 FLJ13490 10q26.13 hypothetical protein FLJ13490 MGC35392 10q26.13 hypothetical protein MGC35392 PEGASUS 10q26 zinc finger protein, subfamily 1A, 5 (Pegasus) ACADSB 10q25-q26 acyl-Coenzyme A dehydrogenase, short/branched chain LOC340784 10q26.13 similar to NK-type homeobox LOC387716 10 similar to Hmx2 protein LOC387717 10 LOC387717 BUB3 10q26 BUB3 budding uninhibited by benzimidazoles 3 homolog (yeast) LOC390009 10 similar to 40S ribosomal protein S26 GPR26 10q26.2-q26.3 G protein-coupled receptor 26 DKFZp761H2121 10q26.13 hypothetical protein DKFZp761H2121 LOC119587 10q26.13 hypothetical protein LOC119587 GALNAC4S-6ST 10q26 hypothetical protein LOC119587 FLJ12616  hypothetical protein FLJ12616 LOC340735 10q26.2 similar to germ cell specific Y-box binding protein; contrin OAT 10q26 ornithine aminotransferase (gyrate atrophy) OATL3 10q26 ornithine aminotransferase-like 3 (pseudogene) LOC390010 10 similar to Sax-1 LHPP 10q26.2 phospholysine phosphohistidine inorganic pyrophosphate phosphatase KIAA0140 10q26.2 phospholysine phosphohistidine inorganic pyrophosphate phosphatase KIAA0157 10q26.2 phospholysine phosphohistidine inorganic pyrophosphate phosphatase
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 5941 47.5 432 - 2010 20547083
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine  highly
     liver   highly
    Urinarybladder   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an all-alpha all terminal domain, transmembrane segment
  • C terminal domain
  • all-alpha, four helical up-and-down bundle
  • mono polymer homomer , tetramer
    isoforms Precursor
    HOMOLOGY
    Homologene
    FAMILY
  • acyl-CoA dehydrogenase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,matrix
    basic FUNCTION
  • catalyzing the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids
  • catalyzes the first matrix step in the mitochondrial beta-oxidation cycle with optimal activity toward butyryl- and hexanoyl-CoA
  • may play a role in controlling the metabolic flux of valproic acid in the development of toxicity of this agent
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism energetic , lipid/lipoprotein
    signaling
    mitochondrial fatty acid beta-oxidation system, first step
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor, nucleotide,
    FAD+
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ACADSBD
    related resource MITOP database
    Susceptibility to hypertension
    Variant & Polymorphism other
  • possible involvement of genetic polymorphisms in ACADSB in essential hypertension
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS