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Protein Page:
COL11A1 (human)

Overview
COL11A1 May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils. Defects in COL11A1 are the cause of Stickler syndrome type 2 (STL2); also known as Stickler syndrome vitreous type 2. STL2 is an autosomal dominant form of Stickler syndrome, an inherited disorder that associates ocular signs with more or less complete forms of Pierre Robin sequence, bone disorders and sensorineural deafness. Ocular disorders may include juvenile cataract, myopia, strabismus, vitreoretinal or chorioretinal degeneration, retinal detachment, and chronic uveitis. 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 COL11A1 are the cause of Marshall syndrome (MRSHS). It is an autosomal dominant disorder characterized by ocular abnormalities, deafness, craniofacial anomalies, and anhidrotic ectodermal dysplasia. Clinical features include short stature; flat or retruded midface with short, depressed nose, flat nasal bridge and anteverted nares; cleft palate with or without the Pierre Robin sequence; appearance of large eyes with ocular hypertelorism; cataracts, either congenital or juvenile; esotropia; high myopia; sensorineural hearing loss; spondyloepiphyseal abnormalities; calcification of the falx cerebri; ectodermal abnormalities, including defects in sweating and dental structures. Defects in COL11A1 are the cause of fibrochondrogenesis type 1 (FBCG1). A severe short-limbed skeletal dysplasia characterized by broad long-bone metaphyses, pear-shaped vertebral bodies, and characteristic morphology of the growth plate, in which the chondrocytes have a fibroblastic appearance and there are regions of fibrous cartilage extracellular matrix. Clinical features include a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen. Belongs to the fibrillar collagen family. 3 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Extracellular matrix; Secreted; Secreted, signal peptide
Chromosomal Location of Human Ortholog: 1p21
Cellular Component: collagen type XI; endoplasmic reticulum lumen; extracellular region
Biological Process: collagen catabolic process; detection of mechanical stimulus involved in sensory perception of sound; sensory perception of sound; visual perception
Disease: Fibrochondrogenesis 1; Intervertebral Disc Disease; Marshall Syndrome; Stickler Syndrome, Type Ii
Reference #:  P12107 (UniProtKB)
Alt. Names/Synonyms: CO11A1; COBA1; COL11A1; COLL6; Collagen alpha-1(XI) chain; collagen XI, alpha-1 polypeptide; collagen, type XI, alpha 1; STL2
Gene Symbols: COL11A1
Molecular weight: 181,065 Da
Basal Isoelectric point: 5.06  Predict pI for various phosphorylation states
Select Structure to View Below

COL11A1

Protein Structure Not Found.


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