ALDH3A2 Antibody – Goat Polyclonal

Aldehyde dehydrogenase isozymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This gene product catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acid. Mutations in the gene cause Sjogren-Larsson syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ALDH3A2: Catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acids. Active on a variety of saturated and unsaturated aliphatic aldehydes between 6 and 24 carbons in length. Responsible for conversion of the sphingosine 1-phosphate (S1P) degradation product hexadecenal to hexadecenoic acid. Defects in ALDH3A2 are the cause of Sjoegren-Larsson syndrome (SLS). SLS is an autosomal recessive neurocutaneous disorder characterized by a combination of severe mental retardation, spastic di- or tetraplegia and congenital ichthyosis (increased keratinization). Ichthyosis is usually evident at birth, neurologic symptoms appear in the first or second year of life. Most patients have an IQ of less than 60. Additional clinical features include glistening white spots on the retina, seizures, short stature and speech defects. Belongs to the aldehyde dehydrogenase family. 2 isoforms of the human protein are produced by alternative splicing.

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

Chromosomal Location of Human Ortholog: 17p11.2

Cellular Component: cytosol; endoplasmic reticulum membrane; integral to membrane; intracellular membrane-bound organelle; mitochondrial inner membrane; nucleus; peroxisomal membrane; peroxisome

Molecular Function: 3-chloroallyl aldehyde dehydrogenase activity; aldehyde dehydrogenase (NAD) activity; aldehyde dehydrogenase [NAD(P)+] activity; long-chain-alcohol oxidase activity; long-chain-aldehyde dehydrogenase activity

Biological Process: aldehyde metabolic process; central nervous system development; epidermis development; fatty acid alpha-oxidation; formaldehyde metabolic process; peripheral nervous system development; phytol metabolic process; response to reactive oxygen species; sesquiterpenoid metabolic process; sphingolipid biosynthetic process

Disease: Sjogren-larsson Syndrome