ALDH1A3

ALDH1A3 is an aldehyde dehydrogenase enzyme that uses retinal as a substrate. Mutations in this gene have been associated with microphthalmia, isolated 8, and expression changes have also been detected in tumor cells.

Full Name

Aldehyde Dehydrogenase 1 Family Member A3

Function

NAD-dependent aldehyde dehydrogenase that catalyzes the formation of retinoic acid (PubMed:27759097). Has high activity with all-trans retinal, and has much lower in vitro activity with acetaldehyde (PubMed:27759097). Required for the biosynthesis of normal levels of retinoic acid in the embryonic ocular and nasal regions; retinoic acid is required for normal embryonic development of the eye and the nasal region (By similarity).

Biological Process

Embryonic camera-type eye development Source: UniProtKB
Embryonic eye morphogenesis Source: UniProtKB
Face development Source: Ensembl
Harderian gland development Source: Ensembl
Inner ear morphogenesis Source: Ensembl
Locomotory behavior Source: Ensembl
Neuromuscular process controlling balance Source: Ensembl
Nucleus accumbens development Source: Ensembl
Olfactory pit development Source: Ensembl
Optic cup morphogenesis involved in camera-type eye development Source: Ensembl
Positive regulation of apoptotic process Source: Ensembl
Protein homotetramerization Source: UniProtKB
Retinal metabolic process Source: UniProtKB
Retinoic acid biosynthetic process Source: UniProtKB
Retinoic acid metabolic process Source: UniProtKB
Retinol metabolic process Source: UniProtKB-UniPathway
Righting reflex Source: Ensembl

Cellular Location

Cytoplasm

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.