COL6A3
Function
Collagen VI acts as a cell-binding protein.
Involvement in disease
Bethlem myopathy 1C
BTHLM1C
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. BTHLM1C inheritance is autosomal dominant.
None
The disease is caused by variants affecting the gene represented in this entry.
Ullrich congenital muscular dystrophy 1C
UCMD1C
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.
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.
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.
The N-terminus is blocked.
Sequence Similarities
Belongs to the type VI collagen family.
Cellular localization
- Secreted
- Extracellular space
- Extracellular matrix
Alternative names
Collagen alpha-3(VI) chain, COL6A3