Entrez gene ID | | 501 |
Official gene symbol | | ALDH7A1 |
Full name | | aldehyde dehydrogenase 7 family, member A1 |
Aliases | | ,ATQ1,EPD,FLJ11738,FLJ92814,PDE, |
Gene summary | | Antiquitin 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. Mutations in this gene cause pyridoxine-dependent epilepsy, which involves a combination of various seizure types and is responsive to immediate administration of pyridoxine hydrochloride. Four additional human antiquitin-like sequences, all of which are pseudogenes, have also been identified. [provided by RefSeq] |
Location | | Chromosome: 5 Locus: 5q31 |
Gene position | | 125931082 - 125878918 Map Viewer |
Gene orientation | | minus |
Gene size | | 52165 bp |
Gene sequence |
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OMIM ID | | 107323 |
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