ADAMTSL2
Gene name: ADAMTS-like 2OMIM ID: 612277
Chromosome location: 9q34.2
Mutations
| Disease/Phenotype | Geleophysic dysplasia 1 |
|---|---|
| Reference transcript | NM_001145320.1 |
| DNA Change | c.338G>A |
| A.A. Change | c.Arg113His |
| Exon/Intron | exon 4 |
| Mutation Type | substitution |
| Reference | Le 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. |