COL9A2 Antibody, FITC conjugated

說明書

中文名稱：

COL9A2兔多克隆抗體, FITC偶聯
貨號：

CSB-PA617900OC01HU
規格：

￥880
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) COL9A2 Polyclonal antibody
Uniprot No.：

Q14055
基因名：

COL9A2
別名：

CO9A2_HUMAN antibody; COL9A2 antibody; Collagen alpha-2(IX) chain antibody
宿主：

Rabbit
反應種屬：

Human
免疫原：

Peptide sequence from Human Collagen alpha-2(IX) chain protein (594-611AA)
免疫原種屬：

Homo sapiens (Human)
標記方式：

FITC
克隆類型：

Polyclonal
抗體亞型：

IgG
純化方式：

Antigen Affinity Purified
濃度：

It differs from different batches. Please contact us to confirm it.
保存緩沖液：

Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
產品提供形式：

Liquid
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：

Structural component of hyaline cartilage and vitreous of the eye.
基因功能參考文獻：
1. rs12077871, rs12722877, and rs7533552 variants in COL9A2 were not significantly associated with a predisposition to lumbar disc degeneration. PMID: 29506578
2. Study provides evidence that the COL9A2 Gln326Arg polymorphism contributes to the development of intervertebral disc disease in the Chinese population. PMID: 28002589
3. Meta-analysis. Our results suggest that the COL9A2 rs12077871, rs12722877, and rs7533552 polymorphisms may not be associated with lumbar disc disease. PMID: 24983932
4. Two novel mutations, c.143G>C in exon 2 and c.884G>A in exon 17 of the COL9A2 gene, may contribute to the development of pathological myopia. PMID: 24711017
5. The allelic variants in the collagen IX genes - COL9A2 and COL9A3 have been identified as genetic risk factors for intervertebral disc disease--{review} PMID: 24636772
6. Studies indicate that two SNPs that introduce tryptophan polymorphisms in COL9A2 and COL9A3 are independently linked to an increased risk of lumbar disc disease. PMID: 21311409
7. Data indicate that no causal SNPs in COL9A2 were significantly associated with LSS, but Haplotype Analysis showed that the "GCAGCG" haplotype (HAP2) was overrepresented in LSS patients. PMID: 21228751
8. loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome PMID: 21671392
9. Data show that the associating G allele in COL9A2 changes a glutamine to arginine or to tryptophan and may predispose to both hip osteoarthritis and lumbar disc degeneration, making it a candidate for degenerative connective tissue diseases. PMID: 21159828
10. mutations leading to skipping of exon 3 within the COL3 domain of the alpha2-chain of collagen type IX may be relatively common in patients with a special subtype of multiple epiphyseal dysplasia PMID: 12244547
11. Both Trp2 and Trp3 allelic products are incorporated into cross-linked fibrillar network of developing human cartilage apparently normally. Any pathological consequences are likely to be long-term and indirect rather than from overt misassembly of matrix. PMID: 12782139
12. The collagen IX is cartilage specific, and expressed in hypertrophic chondrocytes and bone. PMID: 15625128
13. A population study using magnetic resonance imaging to define degenerative disc disease demonstrates that the TRP2 allele (Gln326Trp)of COL9A2 is a significant risk factor for development and severity of degeneration. PMID: 16371896
14. A Japanese family with an autosomal dominant multiple epiphyseal dysplasia (MED EDM2) was studied; genomic analysis for COL9A2 identified an Ex3-1A>G heterozygous mutation, which has been proved to result in skipping of exon 3. PMID: 16440132
15. Association of a COL9A2 specific haplotype with lumbar disc disease in the Japanese population. PMID: 17024315
16. Homozygosity for the Arg allele of Col9A2 seems to be more frequent in the patient group with early recurrence although the differences in the allele frequencies were statistically not significant. PMID: 18080148
17. COL9A2 polymorphisms were associated with intervertebral disc mechanics, relating genetic variations and debilitating mechanical alterations that may ultimately result in intervertebral disc degeneration. PMID: 18246003
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相關疾病：

Multiple epiphyseal dysplasia 2 (EDM2); Intervertebral disc disease (IDD); Stickler syndrome 5 (STL5)
亞細胞定位：

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

Fibril-associated collagens with interrupted helices (FACIT) family
數據庫鏈接：

HGNC: 2218

OMIM: 120260

KEGG: hsa:1298

STRING: 9606.ENSP00000361834

UniGene: Hs.418012

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