COL6A3 Antibody

1. COL6A3 could influence the viability and angiogenesis of bladder cancer cells. COL6A3 may have a certain relationship with the TGF-beta/Smad-induced EMT process. PMID: 30066698
2. The morphology and immunophenotype of all 6 cases was analogous to those with the canonical COL1A1-PDGFB fusion; none of the cases showed fibrosarcomatous transformation. This study illustrates that the COL6A3-PDGFD fusion product is rare in dermatofibrosarcoma protuberans, and associated with an apparent predilection for breast PMID: 30014607
3. Study found COL6A3 expression to be downregulated and associated with poor prognosis in human colorectal cancer (CRC). In silico analysis of cell typespecific gene expression and COL6A3 knockout experiments indicated the clinical relevance of COL6A3 in the development of CRC. PMID: 29620224
4. COL6A mutation Congenital Muscular Dystrophy showed the muscle weakness and poor respiratory function. PMID: 29465610
5. two compound heterozygous mutations in COL6A3 gene lead to myopathy from Ullrich congenital muscular dystrophy and Bethlem myopathy spectrum. PMID: 29894794
6. COL6A3-associated dystonia represents a newly identified autosomal-recessive entity characterized clinically by an early symptom onset with variable distribution. PMID: 26687111
7. Overexpression of endotrophin led to a fibrotic program in white adipose tissue (WAT) adipocytes, a proinflammatory program in (WAT) macrophages, and upregulation of both profibrotic and proinflammatory genes in the stromal vascular fraction isolated from WAT. PMID: 27729337
8. Patients with chronic kidney disease (CKD) are at increased risk of end-stage renal disease (ESRD) and early mortality. Serum endotrophin, a COL6A3 cleavage product was significantly associated with progression to ESRD. PMID: 28403201
9. In conjunction with the relatively high frequency of homozygous carriers of reported mutations in publically available databases, our data call a causal role for variants in COL6A3 in isolated dystonia into question. PMID: 26872670
10. Data indicate that circulating plasma COL6A3 in colorectal cancer (CRC) patients was upregulated significantly comparing with healthy peoples. PMID: 26338966
11. COL6A mutations were identified in eight cases having clinical phenotypes of Ullrich congenital muscular dystrophy (UCMD) or Bethlem myopathy (BM). PMID: 25635128
12. Recessive mutations in the alpha3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia. PMID: 26004199
13. Increased adipocyte COL6A3 expression associates with insulin resistance; COL6A3 mRNA associates with small adipocyte size PMID: 24719315
14. The heterozygous c.3353A>C mutation in exon 8 of the COL6A3 gene is associated with the Bethlem myopathy with autosomal dominant inheritance. PMID: 25449070
15. This study showed that COL6A3 expression appeared to be lowered in obesity, whereas diet- and surgery-induced weight loss increased COL6A3 expression. PMID: 25337653
16. In UCMD, 1 mutation was indentified in Chinese patients. PMID: 24801232
17. Data indicate that endotrophin (COL6alpha3) levels are higher in diabetic patients. PMID: 24647224
18. Postranslational processing of type VI collagen in articular cartilage was investigated: alpha3(VI) collagen C5 domain is initially incorporated into the newly formed type VI fibrils, but after secretion is cut and not in the mature pericellular matrix PMID: 11785962
19. Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy. PMID: 11992252
20. The C-terminal Kunitz-type domain from the alpha3 chain of human type VI collagen (C5), a single amino-acid residue chain with three disulfide bridges, was refined at 0.9 A resolution in a monoclinic form PMID: 12077460
21. These results suggest that different alpha3(VI) chain isoforms, containing also domains of the N10-N7 region, are required for assembling a proper collagen VI network in the extracellular matrix. PMID: 15965965
22. the alpha3(VI) C5 domain is present in the extracellular matrix of SaOS-2 N6-C5 expressing cells and fibroblasts, which demonstrates that processing of the C-terminal region of the alpha3(VI) chain is not essential for microfibril formation PMID: 16613849
23. Col6A3 fusion with colony-stimulating factor-1 gene is associated with tenosynovial giant cell tumors. PMID: 17918257
24. in humans increased COL6A3 mRNA is associated with adipose tissue macrophage chemotaxis and inflammation and that weight gain PMID: 19837927

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HGNC: 2213

OMIM: 120250

KEGG: hsa:1293

STRING: 9606.ENSP00000295550

UniGene: Hs.233240