Ⅲ型胶原蛋白/胶原蛋白3/3型胶原蛋白抗体

英文名称  Anti-Collagen III 
中文名称  Ⅲ型胶原蛋白/胶原蛋白3/3型胶原蛋白抗体 
别    名  COL 3A1; COL3A1; Collagen alpha 1(III) chain; Collagen III alpha 1 chain precursor; Collagen III alpha 1 polypeptide; Collagen type III alpha 1 (Ehlers Danlos syndrome type IV autosomal dominant); Collagen type III alpha 1; Collagen type III alpha; EDS4A; Ehlers Danlos syndrome type IV, autosomal dominant; Fetal collagen; Type III collagen; CO3A1_HUMAN; Collagen alpha-1(III) chain; Type III collagen; type III preprocollagen alpha 1 chain.. 
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产品介绍 The extensive family of COL gene products (collagens) is composed of several chain types, including fibril-forming interstitial collagens (types I, II, III and V) and basement membrane collagens (type IV), each type containing multiple isoforms. Collagens are fibrous, extracellular matrix proteins with high tensile strength and are the major components of connective tissue, such as tendons and cartilage. All collagens contain a triple helix domain and frequently show lateral self-association in order to form complex connective tissues. Several collagens also play a role in cell adhesion, important for maintaining normal tissue architecture and function. 
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.
Function : Collagen type III occurs in most soft connective tissues along with type I collagen.
Subunit : Trimers of identical alpha 1(III) chains. The chains are linked to each other by interchain disulfide bonds. Trimers are also cross-linked via hydroxylysines.
Subcellular Location : Secreted, extracellular space, extracellular matrix.
Post-translational modifications : Proline residues at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
O-linked glycan consists of a Glc-Gal disaccharide bound to the oxygen atom of a post-translationally added hydroxyl group.
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. 
Defects in COL3A1 are the cause of Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]. EDS is a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDS4 is the most severe form of the disease. It is characterized by the joint and dermal manifestations as in other forms of the syndrome, characteristic facial features (acrogeria) in most patients, and by proneness to spontaneous rupture of bowel and large arteries. The vascular complications may affect all anatomical areas. 
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.
Similarity : Belongs to the fibrillar collagen family.
Contains 1 fibrillar collagen NC1 domain.
Contains 1 VWFC domain.
Database links : UniProtKB/Swiss-Prot: P02461