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

ADAMTSL2

Gene name: ADAMTS-like 2
OMIM ID: 612277
Chromosome location: 9q34.2

Mutations

Disease/PhenotypeGeleophysic dysplasia 1
Reference transcriptNM_001145320.1
DNA Changec.338G>A
A.A. Changec.Arg113His
Exon/Intronexon 4
Mutation Typesubstitution
ReferenceLe Goff C, Morice-Picard F, Dagoneau N, Wang LW, Perrot C, Crow YJ, Bauer F, Flori E, Prost-Squarcioni C, Krakow D, Ge G, Greenspan DS, Bonnet D, Le Merrer M, Munnich A, Apte SS, Cormier-Daire V.ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation.
Nat Genet. 2008 Sep;40(9):1119-23.