COL6A1

COL6A1

COL6A1 (pronounced as C-O-L-6-A-1), also known as Collagen Type VI Alpha 1 Chain, is a protein that in humans is encoded by the COL6A1 gene.

Etymology

The term COL6A1 is derived from the words 'Collagen', 'Type VI', and 'Alpha 1 Chain'. 'Collagen' is a protein that provides structure to much of your body, including skin, hair, nails, bones, and joints. 'Type VI' refers to the specific type of collagen, and 'Alpha 1 Chain' refers to the specific chain of the protein.

Function

COL6A1 is a part of the collagen family of proteins, which are the primary structural component of the extracellular matrix. This protein plays a crucial role in maintaining the integrity of various tissues, including muscle tissue, skin, and connective tissue.

Clinical significance

Mutations in the COL6A1 gene are associated with various forms of muscular dystrophy, including Bethlem myopathy and Ullrich congenital muscular dystrophy. These conditions are characterized by muscle weakness and atrophy, joint contractures, and skin abnormalities.

Related terms

• Collagen
• Protein
• Gene
• Extracellular matrix
• Muscle tissue
• Skin
• Connective tissue
• Muscular dystrophy

See also

• COL6A2
• COL6A3

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