Aliases for ALDH1A3 Gene
External Ids for ALDH1A3 Gene
Previous HGNC Symbols for ALDH1A3 Gene
Previous GeneCards Identifiers for ALDH1A3 Gene
This gene encodes 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
GeneCards Summary for ALDH1A3 Gene
ALDH1A3 (Aldehyde Dehydrogenase 1 Family Member A3) is a Protein Coding gene. Diseases associated with ALDH1A3 include Microphthalmia, Isolated 8 and Microphthalmia. Among its related pathways are Phenylalanine metabolism and Vitamin A and Carotenoid Metabolism. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and aldehyde dehydrogenase (NAD) activity. An important paralog of this gene is ALDH1A2.
UniProtKB/Swiss-Prot for ALDH1A3 Gene
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).