Recombinant Human Collagen alpha-2 (VI) chain (COL6A2), partial

中文名稱：

Recombinant Human Collagen alpha-2 (VI) chain(COL6A2),partial
品名簡稱：

Recombinant Human COL6A2 protein, partial
貨號：

CSB-EP005752HU
說明書：

MSDS Datasheet
規格：

￥1836
圖片：
(Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

純度：

Greater than 85% as determined by SDS-PAGE.
基因名：

COL6A2
Uniprot No.：

P12110
別名：

CO6A2_HUMAN; COL6A2; Collagen alpha 2(VI) chain; Collagen alpha-2(VI) chain; collagen type VI alpha 2; Collagen VI alpha 2 polypeptide; human mRNA for collagen VI alpha 2 C terminal globular domain; PP3610
種屬：

Homo sapiens (Human)
蛋白長度：

Partial
來源：

E.coli
分子量：

13.4 kDa
表達區域：

941-1016aa
氨基酸序列

ELSFVFLTDGVTGNDSLHESAHSMRKQNVVPTVLALGSDVDMDVLTTLSLGDRAAVFHEKDYDSLAQPGFFDRFIR
Note: The complete sequence may include tag sequence, target protein sequence, linker sequence and extra sequence that is translated with the protein sequence for the purpose(s) of secretion, stability, solubility, etc.
If the exact amino acid sequence of this recombinant protein is critical to your application, please explicitly request the full and complete sequence of this protein before ordering.
蛋白標簽：

N-terminal 10xHis-tagged and C-terminal Myc-tagged
產品提供形式：

Liquid or Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
緩沖液：

Tris-based buffer，50% glycerol
儲存條件：

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
保質期：

The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
貨期：

Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
注意事項：

Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet & COA：

Please contact us to get it.

產品評價

靶點詳情

功能：

Collagen VI acts as a cell-binding protein.
基因功能參考文獻：
1. binding of collagen VI to NG2 is essential for the direction of tendon fibroblasts migration in vitro. PMID: 26944560
2. Genetic study showed a missense mutation in COL6A2 (c.820 G>A, p.Gly268Ser) that causes a glycine substitution in the Gly-X-Y collagenous motif, at the beginning of the collagenous triple helical domain. The c.820 G>A mutation segregated in all the affected patients. PMID: 27563703
3. Mutations in COL6A2 gene are associated with aberrant mitochondria in Bethlem myopathy. PMID: 25533456
4. In UCMD, 8 mutations were identified in COL6A2 in Chinese patients. PMID: 24801232
5. COL6A2 is overexpressed in Down syndrome-affected umbilical cords at early and term gestational ages. PMID: 23452080
6. Homozygous COL6A2 mutation, p.Asp215Asn, was identified in both affected siblings. We conclude that the COL6A2 p.Asp215Asn mutation is likely to be responsible for PME (Progressive Myoclonus Epilepsy) in this family. PMID: 23138527
7. A deletion within intron 1A of the COL6A2 gene, occurring in compound heterozygosity with a small deletion in exon 28, was identified in a BM patient. PMID: 20302629
8. the C2A splice variant has a role in recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy PMID: 20106987
9. The alpha2(VI) chain modulates matrix-metalloproteinase (MMP) availability by sequestering proMMPs in the extracellular matrix, blocking proteolytic activity. PMID: 19698785
10. the C-terminal globular domain of COL6A2 is not essential for triple-helix formation but is critical for microfibrillar assembly in Ullrich congenital muscular dystrophy PMID: 12218063
11. A case of Ullrich disease is associated with complete deficiency of collagen VI and compound heterozygous mutations in the collagen VI alpha 2 gene with absence of microfibrils on electron microscopy. PMID: 12297580
12. Bethlem myopathy is an autosomal dominantly inherited myopathy with contractures, caused by mutations in COL6A1 gene, COL6A2 gene or COL6A3 gene. PMID: 12374585
13. In Ullrich syndrome, a heterozygous G-to-A substitution at position +5 in intron 23 & the corresponding heterozygous 6-bp deletion in exon 26 which deleted 1 of the 2 tandem repeats of the sequence CATCGG in nt 2268-2273 & 2274-2279 in COL6A2 ORF. PMID: 14981181
14. diminished COL6A2 mRNA expression found to be primary pathogenic mechanism in UCMD patient PMID: 16075202
15. This study demonstrates a homogenoeous overexpression of the genes encoding for alpha1 and alpha2 chains of collagen type VI in nuchal skin of human trisomy 21 fetuses. PMID: 17602442
16. Results describe the characteristic features of myosclerosis myopathy with a homozygous collagen type 6A2 mutation responsible for a peculiar pattern of collagen VI defects. PMID: 18852439
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相關疾病：

Bethlem myopathy 1 (BTHLM1); Ullrich congenital muscular dystrophy 1 (UCMD1); Myosclerosis autosomal recessive (MYOSAR)
亞細胞定位：

Secreted, extracellular space, extracellular matrix. Membrane; Peripheral membrane protein. Note=Recruited on membranes by CSPG4.
蛋白家族：

Type VI collagen family
數據庫鏈接：

HGNC: 2212

OMIM: 120240

KEGG: hsa:1292

STRING: 9606.ENSP00000300527

UniGene: Hs.420269