MGP Database

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MGP000120

UniProt Annotations

Entry Information
Gene Namealdehyde dehydrogenase 1 family, member A3
Protein EntryAL1A3_HUMAN
UniProt IDP47895
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivityAn aldehyde + NAD(P)(+) + H(2)O = a carboxylate + NAD(P)H.
DiseaseMicrophthalmia, isolated, 8 (MCOP8) [MIM:615113]: A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. {ECO:0000269|PubMed:23312594, ECO:0000269|PubMed:23591992, ECO:0000269|PubMed:23646827, ECO:0000269|PubMed:23881059, ECO:0000269|PubMed:24024553, ECO:0000269|PubMed:24568872, ECO:0000269|PubMed:24777706}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionRecognizes as substrates free retinal and cellular retinol-binding protein-bound retinal. Seems to be the key enzyme in the formation of an RA gradient along the dorso-ventral axis during the early eye development and also in the development of the olfactory system (By similarity). {ECO:0000250}.
PathwayCofactor metabolism; retinol metabolism.
SimilarityBelongs to the aldehyde dehydrogenase family. {ECO:0000305}.
Subcellular LocationCytoplasm {ECO:0000250}.
Tissue SpecificityExpressed at low levels in many tissues and at higher levels in salivary gland, stomach, and kidney.
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