COL6A1

Collagen VI acts as a cell-binding protein.

Bethlem myopathy 1A

BTHLM1A

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 1A

UCMD1A

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.

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

Belongs to the type VI collagen family.

• Secreted
• Extracellular space
• Extracellular matrix

Collagen alpha-1(VI) chain, COL6A1

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

Proteins

Immunology & Infectious Disease

108529Da