COL11A2
| collagen, type XI, alpha 2 | |
|---|---|
| Identifiers | |
| Symbol | COL11A2 |
| Alt. symbols | DFNA13, DFNB53 |
| Entrez | 1302 |
| HUGO | 2187 |
| OMIM | 120290 |
| RefSeq | NM_080679 |
| UniProt | P13942 |
| Other data | |
| Locus | Chr. 6 p21.3 |
COL11A2 (collagen, type XI, alpha 2) is a human gene that is one of several genes that provide instructions for the production of type XI collagen. The COL11A2 gene produces one component of this type of collagen, called the pro-alpha2(XI) chain. Type XI collagen adds structure and strength to the tissues that support the body's muscles, joints, organs and skin (the connective tissue). Type XI collagen is normally found in cartilage, the tissue that cushions bones and joints and makes up the flexible portions of the nose and ears. It is also part of the jelly-like substance that fills the eyeball (the vitreous), the inner ear, and the center portion of the discs between the vertebrae in the spine (nucleus pulposus). Type XI collagen also helps maintain the spacing and diameter of type II collagen fibrils. Type II collagen is an important component of the eye and mature cartilage tissue. The size and arrangement of type II collagen fibrils is essential for the normal structure of these tissues.
The pro-alpha2(XI) chain combines with pro-alpha1(XI) and pro-alpha1(II)collagen chains to form a procollagen molecule. These triple-stranded, ropelike procollagen molecules must be processed by enzymes in the cell. Once processed, these procollagen molecules leave the cell and arrange themselves into long, thin fibrils that cross-link to one another in the spaces around cells. The cross-linkages result in the formation of very strong mature type XI collagen fibers.
The COL11A2 gene is located on the short (p) arm of chromosome 6 at position 21.3, from base pair 33,238,446 to base pair 33,268,222.
Nonsyndromic deafness, autosomal dominant: Mutations in the COL11A2 gene have been shown to cause hearing loss without other signs or symptoms (nonsyndromic deafness) in two large families. One family carries a mutation that substitutes the amino acid cysteine (a building block of proteins) for the amino acid arginine at position 549 (written as Arg549Cys) in the alpha 2 chain of type XI collagen. A second family has a mutation that substitutes the amino acid glutamic acid for the amino acid glycine at position 323 (written as Gly323Glu) in this protein. These mutations prevent the normal assembly of type XI collagen. Type XI collagen plays an important role in the structure and function of the inner ear. When mutations in the COL11A2 gene affect the structure of collagen fibrils, hearing loss can result.
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