ALDH3A2 Human Recombinant Protein

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

Chromosomal Location of Human Ortholog: 17p11.2

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

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

Biological Process: phytol metabolic process; epidermis development; central nervous system development; aldehyde metabolic process; sesquiterpenoid metabolic process; peripheral nervous system development

Disease: Sjogren-larsson Syndrome