MitoProteome Database

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

MT000029

UniProt Annotations

Entry Information

Gene Name	aldehyde dehydrogenase 3 family, member A2
Protein Entry	AL3A2_HUMAN
UniProt ID	P51648
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P51648-1; Sequence=Displayed; Name=2; IsoId=P51648-2; Sequence=VSP_001283;
Catalytic Activity	An aldehyde + NAD(+) + H(2)O = a carboxylate + NADH.
Disease	Sjoegren-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.
Function	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. {ECO:0000269\|PubMed:22633490}.
Similarity	Belongs to the aldehyde dehydrogenase family. {ECO:0000305}.
Subcellular Location	Endoplasmic reticulum membrane; Single-pass membrane protein; Cytoplasmic side.