蛋白名称
Collagen alpha-1(III) chain
免疫原
Synthetic Peptide of Collagen III
特异性
The antibody detects endogenous Collagen III protein.
组成
PBS, pH 7.4, containing 0.5%BSA, 0.02% sodium azide as Preservative and 50% Glycerol.
稀释比例
IF 1:200 IHC 1:50-300
纯化工艺
The antibody was affinity-purified from mouse ascites by affinity-chromatography using specific immunogen.
其他名称
COL3A1; Collagen alpha-1(III) chain
背景
collagen type III alpha 1 chain(COL3A1) Homo sapiens This gene encodes the pro-alpha1 chains of type III collagen, a fibrillar collagen that is found in extensible connective tissues such as skin, lung, uterus, intestine and the vascular system, frequently in association with type I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome types IV, and with aortic and arterial aneurysms. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008],
功能
disease:Defects in COL3A1 are a cause of Ehlers-Danlos syndrome type 3 (EDS3) [MIM:130020]; also known as benign hypermobility syndrome. EDS is a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDS3 is a form of Ehlers-Danlos syndrome characterized by marked joint hyperextensibility without skeletal deformity.,disease:Defects in COL3A1 are a cause of susceptibility to aortic aneurysm abdominal (AAA) [MIM:100070]. AAA is a common multifactorial disorder characterized by permanent dilation of the abdominal aorta, usually due to degenerative changes in the aortic wall. Histologically, AAA is characterized by signs of chronic inflammation, destructive remodeling of the extracellular matrix, and depletion of vascular smooth muscle cells.,disease:Defects in COL3A1 are the cause of Ehlers-Danlos syndrome t
