Mouse anti-Human/Mouse/Rat COL3A1 Monoclonal Antibody

Function

Collagen type III occurs in most soft connective tissues along with type I collagen. Involved in regulation of cortical development. Is the major ligand of ADGRG1 in the developing brain and binding to ADGRG1 inhibits neuronal migration and activates the RhoA pathway by coupling ADGRG1 to GNA13 and possibly GNA12

Subcellular Location

Secreted, extracellular space, extracellular matrix

Disease Association

Ehlers-Danlos syndrome, vascular type (EDSVASC) : A severe form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSVASC is an autosomal dominant disease characterized by joint and dermal manifestations as in other forms of the syndrome, and by proneness to spontaneous rupture of bowel and large arteries. The vascular complications may affect all anatomical areas. [The disease is caused by variants affecting the gene represented in this entry] | Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome (PMGEDSV) : An autosomal recessive disorder with a highly variable phenotype and onset in early childhood. Disease features include cobblestone-like malformation of the cortex, polymicrogyria, intellectual and motor developmental delay, small joint hypermobility, vascular fragility, aneurysms, thin translucent skin and easy bruising, congenital heart defects, and foot deformities. Early death due to vascular dissection may occur. [The disease is caused by variants affecting the gene represented in this entry]

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. Interacts with ADGRG1 (PubMed:28258187)

• Ala-Kokko L. et al. Structure of cDNA clones coding for the entire prepro alpha 1 (III) chain of human type III procollagen. Differences in protein structure from type I procollagen and conservation of codon preferences. — Biochem. J. (1989)
• Valkkila M. et al. Genomic organization of the human COL3A1 and COL5A2 genes: COL5A2 has evolved differently than the other minor fibrillar collagen genes. — Matrix Biol. (2001)
• Fang H. et al. PubMed: CI-D7VNSCSJPNHC3 (JAN-)
• PubMed: CI-C1NVK8Q96NAMJ (SEP-)
• Hillier L.W. et al. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. — Nature (2005)
• Mural R.J. et al. PubMed: CI-5GBD0VIIJ7C63 (SEP-)
• The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). — Genome Res. (2004)
• Benson-Chanda V. et al. Cloning and analysis of the 5' portion of the human type-III procollagen gene (COL3A1). — Gene (1989)