Collagen Type XI Alpha 1, ELISA Kit

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

Chromosome: 1; NC_000001.10 (103342023..103574052, complement). Location: 1p21

Store all reagents at 2-8 degree C

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Small volumes of COL11A1 elisa kit 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.

MBS040495 is a ready-to-use microwell, strip plate ELISA (enzyme-linked immunosorbent assay) Kit for analyzing the presence of the Collagen Type XI Alpha 1 (COL11A1) ELISA Kit target analytes in biological samples. The concentration gradients of the kit standards or positive controls render a theoretical kit detection range in biological research samples containing COL11A1. The ELISA analytical biochemical technique of the MBS040495 kit is based on COL11A1 antibody-COL11A1 antigen interactions (immunosorbency) and an HRP colorimetric detection system to detect COL11A1 antigen targets in samples. The ELISA Kit is designed to detect native, not recombinant, COL11A1. Appropriate sample types may include undiluted body fluids and/or tissue homogenates, secretions. Quality control assays assessing reproducibility identified the intra-assay CV (%) and inter-assay CV(%).

181,065 Da

collagen, type XI, alpha 1

collagen alpha-1(XI) chain; collagen alpha-1(XI) chain; collagen XI, alpha-1 polypeptide

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

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

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

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