Gene Symbol | ALDH1A3 |
Entrez Gene ID | 220 |
Full Name | aldehyde dehydrogenase 1 family member A3 |
Synonyms | ALDH1A6,ALDH6,MCOP8,RALDH3 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Microphthalmia, isolated 8, 615113 (3) |