Gene Summary: The protein encoded by this ALDH7A1 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. ALDH7A1 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]General information above from NCBI
Catalytic activity: (S)-2-amino-6-oxohexanoate + NAD(P)(+) + H(2)O = L-2-aminoadipate + NAD(P)H.
Betaine aldehyde + NAD(+) + H(2)O = betaine + NADH.
An aldehyde + NAD(+) + H(2)O = a carboxylate + NADH.
Subunit structure: Homotetramer (By similarity).
Subcellular location: Mitochondrion. Nucleus.
Isoform 2: Cytoplasm, cytosol.
Tissue specificity: Abundant in hepatoma cells and fetal cochlea, ovary, eye, heart, adrenal gland, liver and kidney. Low levels present in adult peripheral blood leukocytes and fetal brain, thymus, spleen, skeletal muscle, lung and tongue.
Involvement in disease: Pyridoxine-dependent epilepsy (PDE) [MIM:266100]: Characterized by a combination of various seizure types. It usually occurs in the first hours of life and is unresponsive to standard anticonvulsants, responding only to immediate administration of pyridoxine hydrochloride. Note=The disease is caused by mutations affecting the gene represented in this entry.
Sequence similarities: Belongs to the aldehyde dehydrogenase family.
General information above from UniProt