catalog number :
MBS821311
products full name :
Anti-Collagen 11 alpha 1 Antibody
products short name :
[Collagen 11 alpha 1]
products name syn :
[COLL6; Collagen alpha-1(XI) chain]
other names :
[collagen alpha-1(XI) chain isoform E preproprotein; Collagen alpha-1(XI) chain; collagen alpha-1(XI) chain; collagen alpha-1(XI) chain; collagen XI, alpha-1 polypeptide; collagen, type XI, alpha 1]
products gene name :
[COL11A1]
other gene names :
[COL11A1; COL11A1; STL2; COLL6; CO11A1; COLL6]
uniprot entry name :
COBA1_HUMAN
reactivity :
Human, Mouse, Rat, Bovine
specificity :
Recognizes endogenous levels of Collagen 11 alpha 1 protein.
purity :
The antibody was purified by immunogen affinity chromatography.
form :
Liquid in 0.42% Potassium phosphate, 0.87% Sodium chloride, pH 7.3, 30% glycerol, and 0.01% sodium azide.
storage stability :
Shipped at 4 degree C. Upon delivery aliquot and store at -20 degree C for one year. Avoid freeze/thaw cycles.
tested application :
Western Blot (WB), Immunohistochemistry (IHC), Immunofluorescence (IF), Immunocytochemistry (ICC)
app notes :
WB (1/500 - 1/1000). IHC (1/100 - 1/200). IF/ICC (1/100 - 1/500)
image1 heading :
Western Blot (WB)
image2 heading :
Immunohistochemistry (IHC)
image3 heading :
Immunofluorescence (IF)
other info1 :
Source: Rabbit
other info2 :
Immunogen: KLH-conjugated synthetic peptide encompassing a sequence within the center region of human Collagen 11 alpha 1. The exact sequence is proprietary.
products description :
Rabbit polyclonal antibody to Collagen 11 alpha 1
ncbi acc num :
NP_001177638.1
ncbi gb acc num :
NM_001190709.1
ncbi mol weight :
167,752 Da
ncbi pathways :
Amoebiasis Pathway (167324); Amoebiasis Pathway (167191); Assembly Of Collagen Fibrils And Other Multimeric Structures Pathway (730306); Collagen Biosynthesis And Modifying Enzymes Pathway (645289); Collagen Formation Pathway (645288); ECM-receptor Interaction Pathway (83068); ECM-receptor Interaction Pathway (479); Extracellular Matrix Organization Pathway (576262); Focal Adhesion Pathway (198795); Focal Adhesion Pathway (83067)
ncbi summary :
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]
uniprot summary :
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: Extracellular matrix; Secreted, signal peptide; Secreted. Chromosomal Location of Human Ortholog: 1p21. Cellular Component: collagen type XI; endoplasmic reticulum lumen; extracellular region. Molecular Function: protein binding, bridging; extracellular matrix binding; metal ion binding; extracellular matrix structural constituent. Biological Process: proteoglycan metabolic process; ossification; inner ear morphogenesis; extracellular matrix organization and biogenesis; 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