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ADAMTSL2 encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) and ADAMTS-like protein family.
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Two compound heterozygous mutations were confirmed in the ADAMTSL2 gene of the patient with geleophysic dysplasia.
A novel mutation in ADAMTSL2 (p. Gly421Ser) gene was identified in individuals with Ehlers-Danlos Syndrome.
Two novel homozygous missense mutations in the ADAMTSL2 gene underlie geleophysic dysplasia in two consanguineous families from the United Arab Emirates.
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia.
These data suggest that ADAMTSL2 mutations may lead to a dysregulation of TGF-beta (zeige TGFB1 Antikörper) signaling and may be the underlying mechanism of geleophysic dysplasia.
the bronchial epithelial dysplasia accompanying microfibril dysregulation in Adamtsl2(-/-) mice cannot be reversed by TGFbeta (zeige TGFB1 Antikörper) neutralization, and thus might be mediated by other mechanisms.
Data suggest that induction of Adamtsl2 mRNA is an integral feature of myogenesis.
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) and ADAMTS-like protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene lacks the protease domain, and is therefore of a member of the the ADAMTS-like protein subfamily. It is a secreted glycoprotein that binds the cell surface and extracellular matrix\; it also interacts with latent transforming growth factor beta binding protein 1. Mutations in this gene have been associated with geleophysic dysplasia.
, ADAMTS-like protein 2
, ADAMTS-like 2 protein
, TSP1-repeat-containing protein 1
, TSP1-repeats containing protein
, TSP1-repeats-containing protein 1