Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

ALDH3A2

Gene name: aldehyde dehydrogenase 3 family, member A2
OMIM ID: 609523
Chromosome location: 17p11.2

Mutations

Disease/PhenotypeSjogren-Larsson syndrome
Reference transcriptNM_000382.2
DNA Changec.325G>A
A.A. Changep.Gly109Arg
Exon/Intronexon 2
Mutation Typesubstitution
ReferenceRafai 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.