Collagen alpha-2(VI) chain

Function

Collagen VI acts as a cell-binding protein.

Involvement in disease

Bethlem myopathy 1B

BTHLM1B

A form of Bethlem myopathy, a slowly progressive muscular dystrophy characterized by joint contractures, most frequently affecting the elbows and ankles, and muscle weakness and wasting involving the proximal and extensor muscles more than the distal and flexor ones. The clinical onset more often occurs in childhood or adulthood, but it can be prenatal with decreased fetal movements or neonatal with hypotonia. The hallmark of Bethlem myopathy is long finger flexion contractures. Inheritance can be autosomal dominant or autosomal recessive.

None

The disease is caused by variants affecting the gene represented in this entry.

Ullrich congenital muscular dystrophy 1B

UCMD1B

A form of Ullrich congenital muscular dystrophy, a disease characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence. Additional findings may include kyphoscoliosis, protruded calcanei, and follicular hyperkeratosis (rough skin). More severely affected patients manifest at birth and never achieve independent ambulation, while patients with milder phenotypes might maintain ambulation into adulthood. Inheritance can be autosomal dominant or autosomal recessive.

None

The disease is caused by variants affecting the gene represented in this entry.

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.

None

The disease is caused by variants affecting the gene represented in this entry.

Post-translational modifications

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

Sequence Similarities

Belongs to the type VI collagen family.

Cellular localization

• Secreted
• Extracellular space
• Extracellular matrix
• Membrane
• Peripheral membrane protein
• Recruited on membranes by CSPG4.

Alternative names

Collagen alpha-2(VI) chain, COL6A2

Database links

swissprot:P12110 entrezGene:1292 entrezGene:1291 swissprot:P12111 swissprot:P12109 omim:120240 omim:120220 omim:120250 entrezGene:1293