Collagen Alpha-1 (COL3A1) Antibody – Rabbit Polyclonal

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]

CO3A1: Collagen type III occurs in most soft connective tissues along with type I collagen. Defects in COL3A1 are a cause of Ehlers-Danlos syndrome type 3 (EDS3); 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). 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). 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. Belongs to the fibrillar collagen family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Secreted, signal peptide; Motility/polarity/chemotaxis; Secreted; Extracellular matrix; Cell adhesion

Chromosomal Location of Human Ortholog: 2q31

Cellular Component: collagen type III; endoplasmic reticulum lumen; extracellular matrix; extracellular region; extracellular space

Molecular Function: extracellular matrix structural constituent; integrin binding; metal ion binding; platelet-derived growth factor binding; protein binding; SMAD binding

Biological Process: aging; axon guidance; cell-matrix adhesion; cerebral cortex development; collagen catabolic process; collagen fibril organization; extracellular matrix disassembly; extracellular matrix organization and biogenesis; fibril organization and biogenesis; gut development; heart development; integrin-mediated signaling pathway; negative regulation of immune response; peptide cross-linking; platelet activation; positive regulation of Rho protein signal transduction; receptor-mediated endocytosis; regulation of immune response; response to cytokine stimulus; response to mechanical stimulus; response to radiation; skeletal development; skin development; transforming growth factor beta receptor signaling pathway; wound healing

Disease: Ehlers-danlos Syndrome, Type Iii; Ehlers-danlos Syndrome, Type Iv, Autosomal Dominant