基因名称(Gene Name)
ADAMTSL2 KIAA0605
免疫原
Synthesized peptide derived from human ATL2 AA range: 194-244
特异性
This antibody detects endogenous levels of ATL2 at Human/Mouse
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.216% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse serum by affinity-chromatography using specific immunogen.
其他名称
ADAMTS-like protein 2 (ADAMTSL-2)
背景
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],
功能
caution:Although strongly similar to members of the ADAMTS family it lacks the metalloprotease and disintegrin-like domains which are typical of that family.,disease:Defects in ADAMTSL2 are the cause of geleophysic dysplasia [MIM:231050]. Geleophysic dysplasia is an autosomal recessive disorder characterized by short stature, brachydactyly, thick skin and cardiac valvular anomalies often responsible for an early death.,miscellaneous:There is a significant increase in total and active TGFB1 in the culture medium as well as nuclear localization of phosphorylated SMAD2 in fibroblasts from individuals with geleophysic dysplasia.,similarity:Contains 1 PLAC domain.,similarity:Contains 7 TSP type-1 domains.,subunit:Interacts with LTBP1.,
