ALDH7A1 (Entrez ID: 501)

Entrez Gene ID 501
Official Gene Symbol ALDH7A1 (GeneCards)
Full name aldehyde dehydrogenase 7 family member A1
Location 5q23.2
Other ids Vega : OTTHUMG00000128942
MIM : 107323
HGNC : HGNC:877
Ensembl : ENSG00000164904
Other names EPD, PDE, ATQ1
Summary 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]

Variants

Found 1 variant in this database.