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

ABHD5

Gene name: abhydrolase domain containing 5
OMIM ID: 604780
Chromosome location: 3p21

Mutations

Disease/PhenotypeChanarin-Dorfman Syndrome
Reference transcriptNM_016006.4
DNA Changec.19G>A
A.A. Changep.Glu7Lys
Exon/Intronexon 1
Mutation Typesubstitution
ReferenceLefevre C, Jobard F, Caux F, Bouadjar B, Karaduman A, Heilig R, Lakhdar H, Wollenberg A, Verret JL, Weissenbach J, Ozg?c M, Lathrop M, Prud'homme JF, Fischer J.Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome.
Am J Hum Genet. 2001 Nov;69(5):1002-12.