COL6A2

COL6A2 (Collagen Type VI Alpha 2 Chain) is a Protein Coding gene. Diseases associated with COL6A2 include Ullrich Congenital Muscular Dystrophy 1 and Myosclerosis, Autosomal Recessive. Among its related pathways are Integrin Pathway and ERK Signaling. An important paralog of this gene is COL6A1.

Full Name

Collagen Type VI Alpha 2 Chain

Function

Collagen VI acts as a cell-binding protein.

Biological Process

Cell adhesion Source: UniProtKB-KW
Collagen fibril organization Source: Reactome
Extracellular matrix organization Source: Reactome
Response to glucose Source: Ensembl

Cellular Location

Extracellular matrix; Membrane. Recruited on membranes by CSPG4.

Involvement in disease

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.
Myosclerosis autosomal recessive (MYOSAR):
A condition characterized by chronic inflammation of skeletal muscle with hyperplasia of the interstitial connective tissue. The clinical picture includes slender muscles with firm 'woody' consistency and restriction of movement of many joints because of muscle contractures.

PTM

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