ALDH3A2
Gene name: aldehyde dehydrogenase 3 family, member A2OMIM ID: 609523
Chromosome location: 17p11.2
Mutations
| Disease/Phenotype | Sjogren-Larsson syndrome |
|---|---|
| Reference transcript | NM_000382.2 |
| DNA Change | c.325G>A |
| A.A. Change | p.Gly109Arg |
| Exon/Intron | exon 2 |
| Mutation Type | substitution |
| Reference | Rafai MA, Boulaajaj FZ, Seito A, Suga Y, Slassi I, Fadel H.[Sjogren-Larsson syndrome: a novel mutation in a Moroccan child]. Arch Pediatr. 2008 Nov;15(11):1648-51. |