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

Chromosomal Location of Human Ortholog: 5q23.2

Cellular Component: cytoplasm; mitochondrial matrix; mitochondrion

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

Biological Process: aldehyde metabolic process; choline catabolic process; lysine catabolic process; sensory perception of sound

Disease: Epilepsy, Pyridoxine-dependent