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  3. COL6A1

COL6A1 (Collagen type VI alpha 1 chain)

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Summary of COL6A1

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. This type of collagen plays an important role in the kidney, inner ear, and eye (R). 

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The Function of COL6A1

Collagen VI acts as a cell-binding protein.

Protein names

Recommended name:

Collagen alpha-1

Short name:

VI

COL6A1 SNPs

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  1. RS1053312 (COL6A1) ??
  2. RS4293630 (COL6A1) ??

Top Gene-Substance Interactions

COL6A1 Interacts with These Diseases

Disease Score

Substances That Increase COL6A1

Substances Interaction Organism Category

Substances That Decrease COL6A1

Substances Interaction Organism Category

Advanced Summary

     collagen VI-related myopathy Mutations in the COL6A1 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 α1(VI) chain. The most frequently affected amino acid is glycine; changes to this building block disrupt the structure of the α1(VI) chain. Other mutations can also disrupt the structure of the α1(VI) chain. Mutations in the COL6A1 gene affect type VI collagen in different ways. Some mutations lead to altered α1(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 α1(VI) chain, which impedes formation of type VI collagen. All of these COL6A1 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 α1(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 COL6A1 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 COL6A1 gene is the alpha(α)1(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.

Conditions with Increased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Conditions with Decreased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Technical

The following transcription factors affect gene expression:

  • AP-1
  • c-Jun

Gene Pathways:

  • Signal Transduction
  • Extracellular matrix organization
  • Protein digestion and absorption

Molecular Function:

  • Platelet-Derived Growth Factor Binding

Biological Processes:

  • Cell Adhesion
  • Cellular Response To Amino Acid Stimulus
  • Collagen Catabolic Process
  • Endodermal Cell Differentiation
  • Extracellular Matrix Organization
  • Osteoblast Differentiation
  • Protein Heterotrimerization
*synonyms

Synonyms/Aliases/Alternative Names of the Gene:

hypothetical protein| alpha-1 type VI collagen| alpha 1 (VI) chain (61 AA)| AS27_04744| BTHLM1| Col6a-1| Collagen alpha-1(VI) chain| collagen, type VI, alpha 1| collagen type VI alpha 1 protein| collagen type VI alpha 1 subunit| collagen VI, alpha-1 polypeptide| collagen VI-alpha1 protein| GW7_13731| H920_10449| I79_006834| M91_02730| M959_07281| MDA_GLEAN10015962| N300_12391| N301_14350| N302_14938| N303_01535| N305_10391| N307_12012| N309_12363| N311_11679| N320_07139| N321_10153| N324_05911| N325_12822| N326_02735| N327_02863| N328_05867| N329_00903| N330_10171| N331_05073| N332_14944| N333_12496| N336_03607| N339_03409| N340_04149| N341_01832| OPLL| PAL_GLEAN10002964| procollagen, type VI, alpha 1| RGD1565398| TREES_T100012551| type IV collagen alpha 1 subunit| UCHMD1| UY3_13589| Y1Q_020321| Y956_10202| col6a1

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