COL11A2 Antibody

說明書

中文名稱：

COL11A2兔多克隆抗體
貨號：

CSB-PA634265
規格：

￥2024
圖片：
Immunohistochemistry analysis of paraffin-embedded human brain tissue, using Collagen XI α2 antibody.
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

產品名稱：

Rabbit anti-Homo sapiens (Human) COL11A2 Polyclonal antibody
Uniprot No.：

P13942
基因名：

COL11A2
宿主：

Rabbit
反應種屬：

Human,Mouse
免疫原：

Synthesized peptide derived from internal of Human Collagen XI α2.
免疫原種屬：

Homo sapiens (Human)
克隆類型：

Polyclonal
純化方式：

The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
濃度：

It differs from different batches. Please contact us to confirm it.
產品提供形式：

Liquid
應用范圍：

ELISA,IHC

推薦稀釋比：

Application	Recommended Dilution
IHC	1:50-1:100

Protocols：

ELISA Protocol
Immunohistochemistry (IHC) Protocol
儲存條件：

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
貨期：

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.
用途：

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

產品評價

靶點詳情

功能：

May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils.
基因功能參考文獻：
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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相關疾病：

Otospondylomegaepiphyseal dysplasia, autosomal dominant (OSMEDA); Otospondylomegaepiphyseal dysplasia, autosomal recessive (OSMEDB); Deafness, autosomal dominant, 13 (DFNA13); Deafness, autosomal recessive, 53 (DFNB53); Fibrochondrogenesis 2 (FBCG2)
亞細胞定位：

Secreted, extracellular space, extracellular matrix.
蛋白家族：

Fibrillar collagen family
數據庫鏈接：

HGNC: 2187

OMIM: 120290

KEGG: hsa:1302

UniGene: Hs.390171

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