COL6A3

COL6A3 (Collagen Type VI Alpha 3 Chain) is a Protein Coding gene. Diseases associated with COL6A3 include Dystonia 27 and Bethlem Myopathy 1. Among its related pathways are Integrin Pathway and ERK Signaling. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase inhibitor activity. An important paralog of this gene is COL6A5.

Full Name

Collagen Type VI Alpha 3 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
Muscle organ development Source: ProtInc

Cellular Location

Extracellular matrix

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.
Dystonia 27 (DYT27):
A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT27 is an autosomal recessive form characterized by segmental isolated dystonia involving the face, neck, bulbar muscles, and upper limbs.

PTM

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