Col6a1-3 Genes

COL6A is an acronym for "collagen 6".

COL6 A1-3 are genes located on chromosome 2 that code for proteins (collagen VI) with very different cellular functions. They function as structural proteins of the extracellular matrix, proteins of the cell nuclear membrane or endoplasmic reticulum, proteins of glycosylation and phospholipid metabolism.

Mutations of the genes - COL6A1, COL6A2, COL6A3- are causative for the subtypes of congenital muscular dystrophy (CMD) described as "congenital muscular dystrophy type Ullrich and Bethlem myopathy".

Clinically typical is the combination of proximal joint contractures and hypermobility of the distal joints with a tendency to hypertrophic scarring and keloid formation.

In tenosynovial giant cell tumor, translocations of the CSF1 gene on chromosome 1 with the COL6A3 gene can be detected.