ALDH3A2 Antibody – Rabbit 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: Carbohydrate Metabolism - butanoate; Amino Acid Metabolism - arginine and proline; Carbohydrate Metabolism - glycolysis and gluconeogenesis; Secondary Metabolites Metabolism - limonene and pinene degradation; Lipid Metabolism - glycerolipid; Oxidoreductase; Amino Acid Metabolism - histidine; Mitochondrial; Amino Acid Metabolism - tryptophan; Other Amino Acids Metabolism - beta-alanine; EC 1.2.1.3; Amino Acid Metabolism - valine, leucine and isoleucine degradation; Membrane protein, integral; Carbohydrate Metabolism - ascorbate and aldarate; Amino Acid Metabolism - lysine degradation; Carbohydrate Metabolism - propanoate; Carbohydrate Metabolism - pyruvate; Lipid Metabolism - fatty acid

Chromosomal Location of Human Ortholog: 17p11.2

Cellular Component: endoplasmic reticulum membrane; intracellular membrane-bound organelle; peroxisomal membrane

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

Biological Process: aldehyde metabolic process; central nervous system development; epidermis development; fatty acid alpha-oxidation; peripheral nervous system development; phytol metabolic process; sphingolipid biosynthetic process

Disease: Sjogren-larsson Syndrome