COL11A2 Antibody – Goat Polyclonal

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]

COL11A2: May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils. Defects in COL11A2 are the cause of Stickler syndrome type 3 (STL3). STL3 is an autosomal dominant non- ocular form of Stickler syndrome. Classical Stickler syndrome associates ocular signs with more or less complete forms of Pierre Robin sequence, bone disorders and sensorineural deafness. Ocular symptoms are absent in STL3. Robin sequence includes an opening in the roof of the mouth (a cleft palate), a large tongue (macroglossia), and a small lower jaw (micrognathia). Bones are affected by slight platyspondylisis and large, often defective epiphyses. Juvenile joint laxity is followed by early signs of arthrosis. The degree of hearing loss varies among affected individuals and may become more severe over time. Syndrome expressivity is variable. Defects in COL11A2 are the cause of autosomal recessive otospondylomegaepiphyseal dysplasia (OSMED). OSMED is a skeletal dysplasia accompanied by severe hearing loss. The phenotype overlaps that of autosomal dominant skeletal disorders (Stickler and Marshall syndromes) but can be distinguished by disproportionately short limbs and lack of ocular involvement. Defects in COL11A2 are the cause of Weissenbacher- Zweymueller syndrome (WZS). WZS is an autosomal dominant disorder allelic with STL3 and OSMED. WZS is also referred to as heterozygous OSMED. Defects in COL11A2 are the cause of deafness autosomal dominant type 13 (DFNA13). DFNA13 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Defects in COL11A2 are the cause of deafness autosomal recessive type 53 (DFNB53). Defects in COL11A2 are the cause of fibrochondrogenesis type 2 (FBCG2). A severe skeletal dysplasia characterized by a flat midface, short long bones, short ribs with broad metaphyses, and vertebral bodies that show distinctive hypoplastic posterior ends and rounded anterior ends, giving the vertebral bodies a pinched appearance on lateral radiographic views. The chest is small, causing perinatal respiratory problems which usually, but not always, result in lethality. Affected individuals who survive the neonatal period have high myopia, mild to moderate hearing loss, and severe skeletal dysplasia. Belongs to the fibrillar collagen family. 9 isoforms of the human protein are produced by alternative splicing.

Protein type: Secreted; Secreted, signal peptide; Extracellular matrix

Cellular Component: collagen; collagen type XI; extracellular region; proteinaceous extracellular matrix

Molecular Function: extracellular matrix structural constituent; metal ion binding

Biological Process: cartilage development; chondrocyte differentiation; collagen fibril organization; ossification; palate development; sensory perception of sound; skeletal development; skeletal morphogenesis; soft palate development; tissue homeostasis