Aldehyde Dehydrogenase, Mitochondrial, 18-517aa (ALDH3A2) Active Protein

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

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

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; response to reactive oxygen species; epidermis development; central nervous system development; formaldehyde metabolic process; aldehyde metabolic process; sesquiterpenoid metabolic process; peripheral nervous system development