Aldehyde Dehydrogenase 7 Family, Member A1 (ALDH7A1) Antibody – Rabbit Polyclonal

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]

ALDH7A1: Multifunctional enzyme mediating important protective effects. Metabolizes betaine aldehyde to betaine, an important cellular osmolyte and methyl donor. Protects cells from oxidative stress by metabolizing a number of lipid peroxidation-derived aldehydes. Involved in lysine catabolism. Defects in ALDH7A1 are the cause of pyridoxine-dependent epilepsy (PDE). PDE is 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. Belongs to the aldehyde dehydrogenase family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: EC 1.2.1.8; Lipid Metabolism - glycerolipid; Lipid Metabolism - fatty acid; Amino Acid Metabolism - valine, leucine and isoleucine degradation; Carbohydrate Metabolism - butanoate; Mitochondrial; EC 1.2.1.3; Carbohydrate Metabolism - glycolysis and gluconeogenesis; Amino Acid Metabolism - lysine degradation; Amino Acid Metabolism - histidine; Secondary Metabolites Metabolism - limonene and pinene degradation; Carbohydrate Metabolism - ascorbate and aldarate; Other Amino Acids Metabolism - beta-alanine; Amino Acid Metabolism - arginine and proline; Oxidoreductase; EC 1.2.1.31; Carbohydrate Metabolism - pyruvate; Carbohydrate Metabolism - propanoate; Amino Acid Metabolism - tryptophan

Chromosomal Location of Human Ortholog: 5q31

Cellular Component: mitochondrion; mitochondrial matrix; cytoplasm; nucleus; cytosol

Molecular Function: L-aminoadipate-semialdehyde dehydrogenase activity; aldehyde dehydrogenase (NAD) activity; protein binding; betaine-aldehyde dehydrogenase activity

Biological Process: sensory perception of sound; glycine betaine biosynthetic process from choline; lysine catabolic process; aldehyde metabolic process

Disease: Epilepsy, Pyridoxine-dependent