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FLASH GENE
Symbol ALDH7A1 contributors: mct/npt - updated : 09-04-2008
HGNC name aldehyde dehydrogenase 7 family, member A1
HGNC id 877
Corresponding disease
EPD epilepsy, pyridoxine-dependent
Location 5q23.2      Physical location : 125.878.917 - 125.931.082
Synonym name
  • antiquitin 1
  • 26g turgor protein homolog
  • alpha-aminoadipic semialdehyde dehydrogenase
  • alpha-AASA dehydrogenase
  • delta1-piperideine-6-carboxylate dehydrogenease
  • P6c dehydrogenase
    • Synonym symbol(s) ATQ1, PDE, FLJ11738, FLJ92814
    EC.number 1.2.1.3
    DNA
    TYPE functioning gene
    STRUCTURE 52.16 kb     18 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    PPIC 5q23.2 peptidylprolyl isomerase C (cyclophilin C) PRDM6 5q21-q23 PR domain containing 6 LOC391826 5 similar to Ubiquitin-like protein SMT3C precursor (Ubiquitin-homology domain protein PIC1) (Ubiquitin-like protein UBL1) (Ubiquitin-related protein SUMO-1) (GAP modifying protein 1) (GMP1) (Sentrin) FLJ36090 5q23.2 hypothetical protein FLJ36090 CSNK1G3 5q23 casein kinase 1, gamma 3 LOC391827 5 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) KIAA1281 5q23.2 KIAA1281 protein LOC391828 5 similar to ribosomal protein L28 LOC391829 5 similar to High mobility group protein 1-like 10 (HMG-1L10) LOC389319 5 LOC389319 NS3TP2 5q23.3 HCV NS3-transactivated protein 2 ALDH7A1 5q31 aldehyde dehydrogenase 7 family, member A1 PHAX 5q23.3 likely ortholog of mouse phosphorylated adaptor for RNA export LOC133609 5q23.3 similar to 60S acidic ribosomal protein P1 LOC389320 5 hypothetical gene supported by AK131015 LOC285008 5q23.3 hypothetical gene supported by BC028282; BC028282; BC028282 LMNB1 5q23.3-q31.1 lamin B1 LOC389321 5 LOC389321 MGC48332 5q23.3 hypothetical protein MGC48332 MRPS5P3 5q23.3 mitochondrial ribosomal protein S5 pseudogene LOC345818 5q23.3 similar to RNA binding motif protein 15; one twenty two protein MEGF10 5q33 MEGF10 protein LOC389322 5 similar to heterogeneous nuclear ribonucleoprotein K LOC133619 5q23.3 hypothetical protein MGC12103 LOC391831 5 similar to Cullin homolog 1 (CUL-1) LOC389323 5 similar to hypothetical protein LOC389324 5 LOC389324 SLC12A2 5q23.3 solute carrier family 12 (sodium/potassium/chloride transporters), member 2 FBN2 5q23-q31 fibrillin 2 (congenital contractural arachnodactyly) SLC27A6 5q23.3 solute carrier family 27 (fatty acid transporter), member 6 CGI-111 5q22.1-q33.3 CGI-111 protein ADAMTS19 5q31 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19 CSS3 5q31.1 chondroitin sulfate synthase 3
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    18 - 3566 - 539 - -
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Hearing/Equilibriumearinnercochlea highly
    Reproductivefemale systemovary   
     female systemuteruscervix highly
    Respiratoryrespiratory tractlarynx  highly
    Urinarykidney    
    Visualeye    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer homomer , dimer
    HOMOLOGY
    interspecies homolog to green pea
    Homologene
    FAMILY
  • aldehyde dehydrogenase family
    • CATEGORY enzyme , regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    basic FUNCTION
  • hypothetical aldehyde dehydrogenase regulating osmotic pressure
  • playing a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation
  • degrades and detoxifies acetaldehyde generated by alcohol metabolism (Guo 2010)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/hearing
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EPD
    Susceptibility to low-trauma osteoporotic fractures (OF)
    Variant & Polymorphism SNP SNP, rs13182402 within the ALDH7A1 gene on chromosome 5q31, was strongly associated with OF (Guo 2010)
    Candidate gene potential candidate gene contributing to the risk of osteoporosis (Guo 2010)
    Marker
    Therapy target
    ANIMAL & CELL MODELS