ALDH3A2

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]

Full Name

Aldehyde Dehydrogenase 3 Family Member A2

Function

Catalyzes the oxidation of medium and long chain aliphatic aldehydes to fatty acids. Active on a variety of saturated and unsaturated aliphatic aldehydes between 6 and 24 carbons in length (PubMed:9133646, PubMed:22633490, PubMed:25047030, PubMed:18035827, PubMed:9662422, PubMed:18182499). Responsible for conversion of the sphingosine 1-phosphate (S1P) degradation product hexadecenal to hexadecenoic acid (PubMed:22633490).

Biological Process

Cellular aldehyde metabolic process Source: UniProtKB
Central nervous system development Source: UniProtKB
Epidermis development Source: UniProtKB
Fatty acid alpha-oxidation Source: Reactome
Hexadecanal metabolic process Source: UniProtKB
Peripheral nervous system development Source: UniProtKB
Phytol metabolic process Source: UniProtKB
Protein import into peroxisome membrane Source: Reactome
Protein insertion into ER membrane Source: Reactome
Sesquiterpenoid metabolic process Source: UniProtKB
Sphingolipid biosynthetic process Source: Reactome

Cellular Location

Microsome membrane; Endoplasmic reticulum membrane

Involvement in disease

Sjoegren-Larsson syndrome (SLS): An autosomal recessive neurocutaneous disorder characterized by a combination of severe mental retardation, spastic di- or tetraplegia and congenital ichthyosis. Ichthyosis is usually evident at birth with varying degrees of erythema and scaling, 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.

Topology

Cytoplasmic: 1-463 aa
Helical: 464-484 aa