COL11A1
COL11A1 (pronounced as C-O-L-11-A-1) is a gene that provides instructions for making one component of type XI collagen. This type of collagen is found in the Cartilage and the Vitreous of the eye.
Etymology
The term COL11A1 is an abbreviation for "Collagen Type XI Alpha 1 Chain". The term "collagen" comes from the Greek words "kolla" meaning "glue" and "gen" meaning "producing".
Function
The COL11A1 gene is part of a family of genes that provide instructions for making collagen proteins. These proteins play a crucial role in maintaining the structure and strength of tissues and organs throughout the body, particularly in the connective tissues.
Clinical significance
Mutations in the COL11A1 gene have been associated with a variety of disorders, including Stickler syndrome, Marshall syndrome, and Fibrochondrogenesis. These conditions are characterized by problems with vision, hearing, and joint function.
Related terms
- Collagen: A protein that provides structure to much of your body, including your skin, hair, nails, bones, and ligaments.
- Gene: The basic physical and functional unit of heredity.
- Mutation: A change in a DNA sequence.
- Stickler syndrome: A genetic disorder that can cause serious vision, hearing, and joint problems.
- Marshall syndrome: A genetic disorder that affects many parts of the body, particularly the eyes, ears, and joints.
- Fibrochondrogenesis: A severe, short-limbed dwarfism that is usually lethal in the perinatal period.
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