COL6A2
COL6A2
The COL6A2 gene, pronounced as /koʊlˈsɪksˈeɪˈtuː/, is a part of the Collagen family of genes. It is responsible for the production of the alpha2 chain of type VI collagen, a protein that plays a crucial role in maintaining the integrity and structure of various tissues in the body.
Etymology
The term COL6A2 is derived from the words 'Collagen, type VI, alpha 2'. Collagen is a Greek word, 'kolla' meaning 'glue' and 'gen' meaning 'producing'. The term signifies the gene's role in producing a specific type of collagen.
Function
The COL6A2 gene provides instructions for making a component of type VI collagen. This type of collagen is found in the Extracellular matrix, a complex structural network that provides support and anchorage to cells and tissues. It is particularly abundant in the skin, skeletal muscles, and Tendons.
Related Terms
- Collagen: A family of proteins that provide structure and support to various body tissues.
- Extracellular matrix: A complex network of proteins and carbohydrates that provides structural support to cells.
- Tendons: Fibrous connective tissues that connect muscle to bone.
Health Relevance
Mutations in the COL6A2 gene can lead to several health conditions, including Bethlem myopathy and Ullrich congenital muscular dystrophy. These conditions are characterized by muscle weakness and joint deformities.
See Also
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