COL11A2 Antibody

Code CSB-PA001741
Size US$100
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  • Western Blot analysis of HuvEc cells using COL11A2 Polyclonal Antibody
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Product Details

Uniprot No.
Target Names
COL11A2
Alternative Names
COBA2_HUMAN antibody; COL11A2 antibody; Collagen alpha 2(XI) antibody; Collagen alpha-2(XI) chain antibody; Collagen type XI alpha 2 antibody; Collagen XI a2 antibody; DAQB-79P13.8 antibody; DFNA13 antibody; DFNB53 antibody; FBCG2 antibody; HGNC:2187 antibody; HKE5 antibody; PARP antibody; Pro a2 chain of collagen type XI antibody; STL3 antibody
Raised in
Rabbit
Species Reactivity
Human,Mouse
Immunogen
Synthesized peptide derived from the C-terminal region of Human COL11A2.
Immunogen Species
Homo sapiens (Human)
Conjugate
Non-conjugated
Isotype
IgG
Purification Method
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Concentration
It differs from different batches. Please contact us to confirm it.
Buffer
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Form
Liquid
Tested Applications
WB, IHC, ELISA
Recommended Dilution
Application Recommended Dilution
WB 1:500-1:2000
IHC 1:100-1:300
ELISA 1:20000
Troubleshooting and FAQs
Storage
Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Lead Time
Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

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Target Background

Function
May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils.
Gene References into Functions
  1. that the COL11A2 gene, which has previously been associated with familial osteoarthritis, may play a role in pain sensitization after the development of osteoarthritis PMID: 28741447
  2. Up to now, merely 7 loci have been linked to mid-frequency hearing loss. Only four genetic mid-frequency deafness genes, namely, DFNA10 (EYA4), DFNA8/12 (TECTA), DFNA13 (COL11A2), DFNA44 (CCDC50), have been reported to date. [review] PMID: 27142990
  3. Data indicate that Ala37Ser is the missense mutation located in the NC4 domain of the collagen type XI COL11A2 protein. PMID: 25633957
  4. A novel mutation in COL11A2 was found in a Japanese family with non-ocular Stickler syndrome. PMID: 25780254
  5. Hearing impairment in non-ocular Stickler syndrome is characterized by non-progressive hearing loss, present since childhood, and mostly mild to moderate in severity. Heterozygote mutations in COL11A2 were present in two pedigrees. PMID: 22796475
  6. These findings thus demonstrate that fibrochondrogenesis can result from either recessively or dominantly inherited mutations in COL11A2 PMID: 22246659
  7. The findings of a significant association between lip and/or palate clefts and two markers in the WNT3 and COL11A2 genes were the most consistent and were observed in all groups analysed and stratified. PMID: 22112025
  8. four loci showed the strongest associations with RA (P<0.005): ZNF391, OR2H1, C6orf26-RDBP and HLA-DPB1-COL11A2. PMID: 21293383
  9. A novel homozygous COL11A2 deletion causes a C-terminal protein truncation with incomplete mRNA decay in a Turkish patient. PMID: 21204229
  10. individuals carrying the C allele at the COL11A2 SNP site, rs2076311, had a lower risk of Kawasaki disease and had a lower probability of developing coronary artery lesions PMID: 20618517
  11. differential regulation by EWS/ERG sarcoma fusion protein and wild-type ERG PMID: 12554743
  12. Mutation in the COL11A2 gene was found in all affected individuals, which lends molecular support to the clinical notion that autosomal recessive Weissenbacher-Zweymuller syndrome (WZS) and otospondylomegaepiphyseal dysplasia (OSMED)are a single entity. PMID: 15558753
  13. mutation type and location are critical determinants in defining the phenotype of COL11A2 associated diseases PMID: 16033917
  14. COL11A2 transcription is regulated by Sp1 proteins and by binding to its proximal promoter PMID: 16734381
  15. diagnosis ofOtospondylomegaepiphyseal dysplasia was diagnosed by identifying a mutation in the COL11A2 gene that encodes the pre-pro-alpha2(XI) chain of type XI collagen that is involved in type II collagen fibrillogenesis. PMID: 18381781

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Involvement in disease
Otospondylomegaepiphyseal dysplasia, autosomal dominant (OSMEDA); Otospondylomegaepiphyseal dysplasia, autosomal recessive (OSMEDB); Deafness, autosomal dominant, 13 (DFNA13); Deafness, autosomal recessive, 53 (DFNB53); Fibrochondrogenesis 2 (FBCG2)
Subcellular Location
Secreted, extracellular space, extracellular matrix.
Protein Families
Fibrillar collagen family
Database Links

HGNC: 2187

OMIM: 120290

KEGG: hsa:1302

UniGene: Hs.390171

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