ALDH1A3
Function
Catalyzes the NAD-dependent oxidation of aldehyde substrates, such as all-trans-retinal and all-trans-13,14-dihydroretinal, to their corresponding carboxylic acids, all-trans-retinoate and all-trans-13,14-dihydroretinoate, respectively (By similarity) (PubMed:27759097). High specificity for all-trans-retinal as substrate, can also accept acetaldehyde as substrate in vitro but with lower affinity (PubMed:27759097). Required for the biosynthesis of normal levels of retinoate in the embryonic ocular and nasal regions; a critical lipid in the embryonic development of the eye and the nasal region (By similarity).
Involvement in disease
Microphthalmia, isolated, 8
MCOP8
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Cofactor metabolism; retinol metabolism.
Sequence Similarities
Belongs to the aldehyde dehydrogenase family.
Tissue Specificity
Expressed at low levels in many tissues and at higher levels in salivary gland, stomach, and kidney.
Cellular localization
- Cytoplasm
Alternative names
ALDH6, ALDH1A3, Retinaldehyde dehydrogenase 3, RALDH-3, RalDH3, Aldehyde dehydrogenase 6, Aldehyde dehydrogenase family 1 member A3