ALDH3A2
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:18035827, PubMed:18182499, PubMed:22633490, PubMed:25047030, PubMed:9133646, PubMed:9662422). Responsible for conversion of the sphingosine 1-phosphate (S1P) degradation product hexadecenal to hexadecenoic acid (PubMed:22633490).
Involvement in disease
Sjoegren-Larsson syndrome
SLS
An autosomal recessive neurocutaneous disorder characterized by a combination of severe intellectual disability, 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.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the aldehyde dehydrogenase family.
Tissue Specificity
Detected in liver (at protein level).
Cellular localization
- Microsome membrane
- Single-pass membrane protein
- Endoplasmic reticulum membrane
- Single-pass membrane protein
- Cytoplasmic side
Alternative names
ALDH10, FALDH, ALDH3A2, Aldehyde dehydrogenase family 3 member A2, Aldehyde dehydrogenase 10, Fatty aldehyde dehydrogenase, Microsomal aldehyde dehydrogenase