Rabbit anti-Human, Mouse COL11A1 Polyclonal Antibody | anti-COL11A1 antibody

COL11A1 (G610) Polyclonal Antibody

Cat. Num. AAA3002248

• Gene Names: COL11A1; STL2; COLL6; CO11A1; DFNA37
• Reactivity: Human, Mouse
• Applications: Immunohistochemistry
• Purity: The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen and the purity is >95% (by SDS-PAGE).
• Synonyms: COL11A1; Polyclonal Antibody; COL11A1 (G610) Polyclonal Antibody; COBA1; COLL6; Collagen alpha 1; Collagen alpha-1(XI) chain; collagen XI alpha 1; collagen XI; alpha 1 polypeptide; collagen; type XI; alpha 1; STL2; STL3; XI chain precursor; anti-COL11A1 antibody

• Host: Rabbit
• Reactivity: Human, Mouse
• Clonality: Polyclonal
• Isotype: IgG
• Specificity: COL11A1 (G610) polyclonal antibody detects endogenous levels of COL11A1 protein.
• Purity/Purification: The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen and the purity is >95% (by SDS-PAGE).
• Form/Format: Rabbit IgG, 1mg/ml in PBS with 0.02% sodium azide, 50% glycerol, pH7.2
• Sequence Length: 1767

• Applicable Applications for anti-COL11A1 antibody: Immunohistochemistry (IHC)
• Application Notes: IHC: 1:50-1:200
• Preparation and Storage: Store at 4°C short term.; Aliquot and store at -20°C long term.; Avoid freeze-thaw cycles.

Immunohistochemistry (IHC)

(Immunohistochemistry (IHC) analyzes of COL11A1 (G610) pAb in paraffin-embedded human tonsil carcinoma tissue at 1:50.)

Related Product Information for anti-COL11A1 antibody

Collagen Type XI is an 1806 amino acid protein belonging to the fibrillar collagen family. Collagen Type XI is thought to play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils. This protein forms trimers composed of three different chains: a 1(XI), a 2(XI), and a 3(XI). a 3(XI) is a post-translational modification of a 1(II). a 1(V) can also be found instead of a 3(XI). Collagen Type XI has three named isoforms (A, B, C) and additional isoforms seem to exist, stemming from alternative usage of exon IIA or exon IIB. Transcripts containing exon IIA or IIB are present in cartilage, but exon IIB is preferentially utilized in transcripts from tendon. Collagen Type XI contains a single collagen binding TSP N-terminal (TSPN) domain. Collagen Type XI is expressed in cartilage, placenta and some tumor or virally transformed cell lines. Isoform expression can be tissue specific. Defects in the COL11A gene are the cause of Stickler syndrome type 2 (STL2), or beaded vitreous type, due to the presence of irregularly thickened fiber bundles throughout vitreous cavity.

NCBI and Uniprot Product Information

• NCBI GI #: 299523257
• NCBI GeneID: 1301
• NCBI Accession #: NP_001177638.1
• NCBI GenBank Nucleotide #: NP_001177638.1
• UniProt Accession #: P12107
• Molecular Weight: ~181kDa
• NCBI Official Full Name: collagen alpha-1(XI) chain isoform E preproprotein
• NCBI Official Synonym Full Names: collagen type XI alpha 1 chain
• NCBI Official Symbol: COL11A1
• NCBI Official Synonym Symbols: STL2; COLL6; CO11A1; DFNA37
• NCBI Protein Information: collagen alpha-1(XI) chain
• UniProt Protein Name: Collagen alpha-1(XI) chain
• Protein Family: Collagen
• UniProt Gene Name: COL11A1
• UniProt Synonym Gene Names: COLL6
• UniProt Entry Name: COBA1_HUMAN

NCBI Description

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 Description

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; metal ion binding; extracellular matrix structural constituent

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

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