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Collagen type VI alpha-2 chain (COL6A2)
- Target
- COL6A2
- Molecular classification
- Other (structural protein, extracellular matrix protein, collagen family)[1][3][4][5]
01
Overview
Collagen type VI alpha-2 chain is a key structural protein encoded by the COL6A2 gene, forming one of the three alpha chains (along with alpha-1 and alpha-3) that assemble into type VI collagen, a beaded filament collagen primarily present in the extracellular matrix of connective tissues and skeletal muscle. This protein is essential for maintaining extracellular matrix integrity, linking basement membranes to nearby cells, thereby supporting structural stability and function in muscles, skin, joints, and other tissues. Mutations in the COL6A2 gene can impair collagen VI assembly or function, leading to a spectrum of muscle disorders including Bethlem myopathy and Ullrich congenital muscular dystrophy, which manifest as progressive muscle weakness, joint contractures, and connective tissue abnormalities[1][2][3][4][5].
- Other names
- Collagen alpha-2(VI) chainCOL6A2BTHLM1BTHLM1BPP3610UCMD1UCMD1Bcollagen VI alpha-2 polypeptidecollagen, type VI, alpha 2CO6A2_HUMAN[1][4]
02
Biological functions
Extracellular matrix organizationStructural supportCell stability and growthProtein bindingConferring tensile strength[1][2][3][4][5]
03
Disease associations
Muscular dystrophy (including Collagen VI-related dystrophy, Bethlem myopathy, Ullrich congenital muscular dystrophy)Muscle weaknessConnective tissue disorders[1][2][3][4]
04
Safety considerations
Notable safety/therapeutic concerns primarily arise from loss-of-function or dominant negative mutations but not from therapeutic inhibition; there are no approved drugs specifically targeting this protein, and loss or dysfunction can cause progressive muscular dystrophy and connective tissue pathologies[1][2][3]
05
Biomarkers
Genetic variants in COL6A2 may serve as diagnostic biomarkers for collagen VI-related muscular dystrophies and related connective tissue disorders[1][2]
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