COL9A2
COL9A2 (pronounced as C-O-L-9-A-2) is a gene that provides instructions for making a component of type IX collagen.
Etymology
The term "COL9A2" is derived from the words "Collagen", referring to the protein family it belongs to, and "9A2", indicating its specific type and variant within the family.
Function
COL9A2 is part of a larger group of genes that provide instructions for making the various components of type IX collagen. This type of collagen is found primarily in the cartilage, which is a tough, flexible tissue that makes up much of the skeleton during early development. Most mutations in the COL9A2 gene lead to the production of an abnormal version of the alpha-2(IX) chain that cannot be incorporated into type IX collagen. As a result, cartilage is weakened and is less able to resist the wear and tear of everyday movements.
Related Terms
- Collagen: The protein family that COL9A2 belongs to.
- Cartilage: The primary location where type IX collagen is found.
- Gene: A distinct sequence of nucleotides forming part of a chromosome, the order of which determines the order of monomers in a polypeptide or nucleic acid molecule which a cell (or virus) may synthesize.
- Mutation: The changing of the structure of a gene, resulting in a variant form that may be transmitted to subsequent generations, caused by the alteration of single base units in DNA, or the deletion, insertion, or rearrangement of larger sections of genes or chromosomes.
See Also
References
- Genetics Home Reference. (n.d.). COL9A2 gene. Retrieved from https://ghr.nlm.nih.gov/gene/COL9A2
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