Description
Product Characteristics:
ADAMTS (A Disintegrin And Metalloproteinase Domain with Thrombospondin type 1 Modules) is a family of zinc-dependent proteases that are implicated in a variety of normal and pathological conditions, including arthritis and cancer. ADAMTS protein family members contain an amino-terminal propeptide domain, a metalloproteinase domain, a disintegrin-like domain and a carboxy-terminus that contains a varying number of Thrombospondin type 1 (TSP-1) motifs. ADAMTS-L2 (ADAMTS-like protein 2) is a 951 amino acid secreted protein that is highly expressed in lung, kidney and liver. Mutations in the gene encoding ADAMTS are the cause of geleophysic dysplasia, an autosomal recessive disorder characterized by cardiac vavular anomalies, short stature, thick skin and brachydactyly. In individuals affected with geleophysic dysplasia, there is a significant increase in total active TGF-beta 1 and nuclear locations of p-SAMD2 in fibroblasts. Interestingly, ADAMTS-L2 interacts with LTBP-1, a glycoprotein that is part of the platelet-derived TGF-beta 1 complex.
Subcellular location: Secreted
Synonyms: ADAMTS like 2, ADAMTS like protein 2, ADAMTS-like protein 2, ADAMTSL 2, ADAMTSL-2, ADAMTSL2, ATL2_HUMAN.
Target Information: 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. [provided by RefSeq, Feb 2009]