COL6A3

SNP Table

variant	genotype	frequency	risk allele
rs398124119
rs10929232
rs142546062
rs2325812
rs370719148
rs36117715
rs137910388
rs199632952
rs76646066
rs10929233
rs1440993550
rs540955708
rs111231885
rs111402193
rs111595697
rs111803773
rs112010940
rs112181324
rs112638391
rs112913396

26661 associated SNPs in total

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Summary GHR Function Frequently Asked Questions

Summary

This gene encodes part of a complex that helps make collagen. Collagen helps provide structure and strength to the connective tissues that support the body's muscles, joints, organs, and skin (R).

Protein names

collagen type VI alpha 3 chain [Source:HGNC Symbol;Acc:HGNC:2213]

GHR Function

Collagens are found in the extracellular matrix, which is an intricate lattice that forms in the space between cells and provides structural support. Type VI collagen is located in the extracellular matrix surrounding cells that make up the muscles used for movement (skeletal muscle cells) and cells that make up connective tissue, which provides strength and flexibility to structures throughout the body, including skin and joints. The extracellular matrix is necessary for cell stability and growth. Research suggests that type VI collagen links basement membranes, which are thin, sheet-like structures that are part of the extracellular matrix, to nearby cells.

More Information

collagen VI-related myopathy Mutations in the COL6A3 gene have been found to cause some cases of collagen VI-related myopathy, which is a group of disorders that vary in severity but generally result in muscle weakness and joint deformities called contractures. These mutations often change single protein building blocks (amino acids) in the α3(VI) chain. The most frequently affected amino acid is glycine; changes to this building block disrupt the structure of the α3(VI) chain. Other mutations can also disrupt the structure of the α3(VI) chain. Mutations in the COL6A3 gene affect type VI collagen in different ways. Some mutations lead to altered α3(VI) chains that can be incorporated into the mature type VI collagen molecule, although they disrupt the molecule’s structure and function. Other mutations result in an altered chain that cannot be incorporated at all. Still other mutations prevent the production of any functional α3(VI) chain, which impedes formation of type VI collagen. All of these COL6A3 gene mutations lead to a reduction or absence of functional collagen VI molecules. While it is difficult to predict the severity of collagen VI-related myopathy based on the type of mutation, in general, lower amounts of type VI collagen lead to more severe signs and symptoms that begin earlier in life. Changes in α3(VI) chain structure or production lead to an unstable extracellular matrix that is no longer attached to cells through the basement membrane. As a result, the stability of muscle cells and connective tissue progressively declines, which leads to the muscle weakness, contractures, and other signs and symptoms of collagen VI-related myopathy.

The COL6A3 gene provides instructions for making one component of type VI collagen, which is a flexible protein found in the space that surrounds cells. Specifically, the protein produced from the COL6A3 gene is the alpha(α)3(VI) chain of type VI collagen. This chain combines with chains produced from other genes to produce a complete type VI collagen molecule. Collagens are found in the extracellular matrix, which is an intricate lattice that forms in the space between cells and provides structural support. Type VI collagen is located in the extracellular matrix surrounding cells that make up the muscles used for movement (skeletal muscle cells) and cells that make up connective tissue, which provides strength and flexibility to structures throughout the body, including skin and joints. The extracellular matrix is necessary for cell stability and growth. Research suggests that type VI collagen links basement membranes, which are thin, sheet-like structures that are part of the extracellular matrix, to nearby cells.

Frequently Asked Questions

Why Are Alleles for This SNP Different Elsewhere? Major vs. Reference Allele Is My Variant Good or Bad? SNP vs. Mutation

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