Collagen III è un gene codificato dal simbolo COL3A1. Altri nomi includono: Collagen alpha-1(III) chain; COL3A1. Collagen III ha una massa di 138.56kDa, una lunghezza di amminoacidi di 1466, ed è implicato nella malattia: Ehlers-Danlos syndrome, vascular type; Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome.
Offriamo 12 anticorpi contro Collagen III, allevati nel Coniglio e Topo, che sono adatti per WB, IHC, ELISA, ICC/IF, IP e RIA con campioni derivati da Umano, Topo e Ratto.
Informazioni su geni e proteine
Riepilogo UniProt
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.
Sommario di Entrez
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.
Coinvolgimento nella malattia
Ehlers-Danlos syndrome, vascular type: 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.
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome: 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.
Somiglianze di sequenza
Belongs to the fibrillar collagen family.
Modifica post-translazionale
Proline residues at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
Posizione cellulare
Secreted > Extracellular space > Extracellular matrix.
