COL11A1; collagen, type XI, alpha 1; CO11A; COLL6; STL2; alpha 1 type XI collagen; collagen XI alpha 1; collagen XI, alpha-1 polypeptide

For Research Use Only. Not for use in diagnostic procedures.

100ug of dried peptide

Shipped at ambient temperature, store at -20 degree C

Manufactured in an ISO 9001:2008 Certified Laboratory.

Small volumes of COL11A1 blocking peptide vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

167,752 Da

collagen type XI alpha 1

collagen alpha-1(XI) chain

Collagen alpha-1(XI) chain

COLL6??[Similar Products]

COBA1_HUMAN

This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]

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.

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

Chromosomal Location of Human Ortholog: 1p21

Cellular Component: collagen type XI; endoplasmic reticulum lumen; extracellular region

Molecular Function: extracellular matrix binding; extracellular matrix structural constituent; metal ion binding; protein binding, bridging

Biological Process: cartilage condensation; chondrocyte development; collagen catabolic process; collagen fibril organization; detection of mechanical stimulus involved in sensory perception of sound; embryonic skeletal morphogenesis; extracellular matrix organization and biogenesis; inner ear morphogenesis; ossification; proteoglycan metabolic process; sensory perception of sound; ventricular cardiac muscle morphogenesis; visual perception

Disease: Fibrochondrogenesis 1; Intervertebral Disc Disease; Marshall Syndrome; Stickler Syndrome, Type Ii

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