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 Isolated Microphthalmia. Among its related pathways are Signaling by GPCR and beta-Alanine metabolism (KEGG). 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
Recognizes 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).