COL6A1

COL6A1 (Collagen Type VI Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL6A1 include Bethlem Myopathy 1 and Ullrich Congenital Muscular Dystrophy 1. Among its related pathways are Integrin Pathway and ERK Signaling. Gene Ontology (GO) annotations related to this gene include platelet-derived growth factor binding. An important paralog of this gene is COL6A2.

Collagen Type VI Alpha 1 Chain

Collagen VI acts as a cell-binding protein.

Cell adhesion Source: UniProtKB-KW
Cellular response to amino acid stimulus Source: Ensembl
Collagen fibril organization Source: Reactome
Endodermal cell differentiation Source: UniProtKB
Extracellular matrix organization Source: Reactome
Osteoblast differentiation Source: UniProtKB

Extracellular matrix

Bethlem myopathy 1 (BTHLM1):
A benign proximal myopathy characterized by early childhood onset and joint contractures most frequently affecting the elbows and ankles.
Ullrich congenital muscular dystrophy 1 (UCMD1):
A congenital myopathy characterized by muscle weakness and multiple joint contractures, generally noted at birth or early infancy. The clinical course is more severe than in Bethlem myopathy.

Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.