MGP Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins
MGP000122

UniProt Annotations

Entry Information
Gene Namealdehyde dehydrogenase 3 family, member A2
Protein EntryAL3A2_HUMAN
UniProt IDP51648
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P51648-1; Sequence=Displayed; Name=2; IsoId=P51648-2; Sequence=VSP_001283;
Catalytic ActivityAn aldehyde + NAD(+) + H(2)O = a carboxylate + NADH.
DiseaseSjoegren-Larsson syndrome (SLS) [MIM:270200]: 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. {ECO:0000269|PubMed:10577908, ECO:0000269|PubMed:10792573, ECO:0000269|PubMed:8528251, ECO:0000269|PubMed:9254849, ECO:0000269|PubMed:9829906}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionCatalyzes 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. {ECO:0000269|PubMed:22633490}.
SimilarityBelongs to the aldehyde dehydrogenase family. {ECO:0000305}.
Subcellular LocationEndoplasmic reticulum membrane; Single-pass membrane protein; Cytoplasmic side.
  logo