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FLASH GENE
Symbol ALDH6A1 contributors: - updated : 27-10-2006
HGNC name aldehyde dehydrogenase 6 family, member A1
HGNC id 7179
Corresponding disease
MMSDHD methylmalonate semialdehyde dehydrogenase deficiency
Location 14q24.2      Physical location : 74.526.873 - 74.551.196
Synonym name
  • methylmalonate semialdehyde deshydrogenase
  • acylating mitochondrial
  • Synonym symbol(s) MGC40271, MMSDH, MMSADHA
    EC.number 1.2.1.27, 1.2.1.18
    DNA
    TYPE functioning gene
    STRUCTURE 24.00 kb     12 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    PAPLN 14q24.2 papilin, proteoglycan-like sulfated glycoprotein NUMB 14q24.3 numb homolog (Drosophila) C14orf169 14q24.2 chromosome 14 open reading frame 169 NT5CP2 14q24.2 5',3'-nucleotidase, cytosolic pseudogene 2 ZAP128 14q24.3 5',3'-nucleotidase, cytosolic pseudogene 2 NT5CP1 14q24.2 5',3'-nucleotidase, cytosolic pseudogene 1 PTE2B 14q24.2 peroxisomal acyl-CoA thioesterase 2B C14orf42 14q24.1 chromosome 14 open reading frame 42 NDUFB8P1 14 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, pseudogene 1 C14orf168 14q24.3 chromosome 14 open reading frame 168 PNMA1 14q24.2 paraneoplastic antigen MA1 ZADH1 14q24.1-q24.2 zinc binding alcohol dehydrogenase, domain containing 1 ZNF410 14q24.3 zinc finger protein 410 C14orf44 14q24.2 chromosome 14 open reading frame 44 COQ6 14q24.2 coenzyme Q6 homolog (yeast) ENTPD5 14q24 ectonucleoside triphosphate diphosphohydrolase 5 RPL41P4 14 ribosomal protein L41 pseudogene 4 C14orf45 14q24.2 chromosome 14 open reading frame 45 ALDH6A1 14q24.2 aldehyde dehydrogenase 6 family, member A1 C14orf46 14q24.2 chromosome 14 open reading frame 46 CHX10 14q24.3 ceh-10 homeo domain containing homolog (C. elegans) ABCD4 14q24.3 ATP-binding cassette, sub-family D (ALD), member 4 C14orf115 14q24.2 chromosome 14 open reading frame 115 RPS2P2 14 ribosomal protein S2 pseudogene 2 NPC2 14q24.3 Niemann-Pick disease, type C2 HBLD1 14q24.2 HESB like domain containing 1 C14orf141 14q24.2 chromosome 14 open reading frame 141 LTBP2 14q24.3 latent transforming growth factor beta binding protein 2 KIAA0317 14q22.1-q24.3 latent transforming growth factor beta binding protein 2 C14orf111 14q24.2 chromosome 14 open reading frame 111 C14orf170 14q24.3 chromosome 14 open reading frame 170 FLJ36749 14q24.2 hypothetical protein FLJ36749 LOC390494 14 similar to DC3 DLST 14q24.3 dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex) RPS6KL1 14q24.2 ribosomal protein S6 kinase-like 1 PGF 14q24.3 placental growth factor, vascular endothelial growth factor-related protein
    regionally located located between markers D14S71 and D14S986
    RNA
    TRANSCRIPTS type messenger
    EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
    Nervousbrain    
    Reproductivemale systemprostate   
    Respiratorylung    
    Skin/Tegumentskin    
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier/lining   
    Lymphoid    
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymphocyte
    cell lineage
    cell lines
    fluid/secretion plasma, serum
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    a mitochondrial entry sequence composed of the first 32 residues
    mono polymer homomer , tetramer
    HOMOLOGY
    interspecies homolog to Drosophila EG:171D11.1
    homolog to C.elegans F13D12.4
    homolog to rattus Mmsdh
    Homologene
    FAMILY aldehyde deshydrogenases superfamily
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    basic FUNCTION
  • catalyzing the irreversible oxidative decarboxylation of malonate and methylmalonate semialdehydes to acetyl- and propionyl-CoA respectively
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism nucleic , purine/pyrimidine
    signaling
  • pyrimidine nucleotide metabolism (catabolism)
  • valine metabolism (catabolism)
  • a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor,
    NAD+
    protein
    cell & other binding to fatty acyl CoA
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MMSDHD
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS