Col11a2 - collagen, type XI, alpha 2 Gene

This gene encodes the alpha-2 subunit of type XI Collagen, one of the low abundance fibrillar collagens found in cartilage. The encoded protein, in association with other Collagen subunits, forms a heterotrimeric type XI procollagen that may undergo proteolytic processing similar to the alpha-1 subunit. Mice lacking the encoded protein exhibit a mild phenotype similar to nonocular Stickler syndrome, otospondylomegaepiphyseal dysplasia (OSMED) as well as a nonsyndromic form of deafness called DFNA13. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]