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Gene : ALDH7A1 Homo sapiens

Name  ? aldehyde dehydrogenase 7 family member A1 Cytological Location  5q23.2
Brief Description  aldehyde dehydrogenase 7 family member A1
Description  The protein encoded by this gene is a member of subfamily 7 in the aldehyde dehydrogenase gene family. These enzymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This particular member has homology to a previously described protein from the green garden pea, the 26g pea turgor protein. It is also involved in lysine catabolism that is known to occur in the mitochondrial matrix. Recent reports show that this protein is found both in the cytosol and the mitochondria, and the two forms likely arise from the use of alternative translation initiation sites. An additional variant encoding a different isoform has also been found for this gene. Mutations in this gene are associated with pyridoxine-dependent epilepsy. Several related pseudogenes have also been identified. [provided by RefSeq, Jan 2011]
  • synonyms:
  • uc003ktx.5,
  • HGNC:877,
  • ALDH7A1,
  • EPD,
  • ATQ1,
  • alpha-AASA dehydrogenase,
  • delta1-piperideine-6-carboxylate dehydrogenease,
  • NM_001182,
  • OTTHUMG00000128942,
  • alpha-aminoadipic semialdehyde dehydrogenase,
  • aldehyde dehydrogenase 7 family, member A1,
  • antiquitin 1,
  • EPD,
  • PDE,
  • PDE,
  • S74728,
  • P6c dehydrogenase,
  • 26g turgor protein homolog,
  • ATQ1
  • identifiers:
  • 501,
  • ENSG00000164904,
  • ALDH7A1

Genome feature

Region: gene ? Length: 53379  
Location: 5:126541841-126595219 reverse strand Cyto location: 5q23.2

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1 Diseases

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3753 SN Ps

5 Cross References

20 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results