chromosome 2
Chromosome 2 is the second largest human chromosome. It represents almost 8% of the total DNA in cells.
Summary: | Gene examples of chromosome 2: | |
|---|---|---|
| COL3A1, COL4A3, COL4A4, COL5A2: These genes encode different types of collagens. Collagens form a family of proteins that strengthen and support many tissues in the body, including skin, ligaments, bones, tendons, muscles and the extracellular matrix (the space between cells and tissues). Mutations in these genes can cause hyperextensibility and fragility of the skin and joint hypermobility (Ehlers-Danlos syndrome) or damages of kidney, inner ear and eye (Alport syndrome). | The BMPR2 gene belongs to a family (bone morphogenetic protein receptor family) of genes identified for its role in regulating the growth and differentiation of mainly bone and cartilage. |
