Human Collagen Type Ⅵ(COLⅥ) ELISA Kit

Instructions
Code CSB-E16375h
Size 96T,5×96T,10×96T
Trial Size 24T ELISA kits trial application
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Product Details

Target Name collagen, type VI, alpha 1
Alternative Names Alpha 1 (VI) chain (61 AA) ELISA Kit; CO6A1_HUMAN ELISA Kit; COL6A1 ELISA Kit; COL6A2 ELISA Kit; COL6A3 ELISA Kit; collagen 6 ELISA Kit; Collagen alpha 2(VI) chain ELISA Kit; Collagen alpha 3(VI) chain ELISA Kit; Collagen alpha-1(VI) chain ELISA Kit; collagen six ELISA Kit; Collagen type VI alpha 1 ELISA Kit; Collagen type VI alpha 2 ELISA Kit; Collagen type VI alpha 3 ELISA Kit; Collagen VI alpha 1 polypeptide ELISA Kit; Collagen VI alpha 2 polypeptide ELISA Kit; Collagen VI alpha 3 polypeptide ELISA Kit; CollagenVI ELISA Kit; Human mRNA for collagen VI alpha 2 C terminal globular domain ELISA Kit; OPLL ELISA Kit; PP3610 ELISA Kit
Abbreviation COL6A1
Uniprot No. P12109
Species Homo sapiens (Human)
Sample Types serum, plasma, cell culture supernates, urine
Detection Range 31.25 pg/mL-2000 pg/mL
Sensitivity 7.81 pg/mL
Assay Time 1-5h
Sample Volume 50-100ul
Detection Wavelength 450 nm
Research Area Signal Transduction
Assay Principle quantitative
Measurement Sandwich
Precision
Intra-assay Precision (Precision within an assay): CV%<8%      
Three samples of known concentration were tested twenty times on one plate to assess.  
Inter-assay Precision (Precision between assays): CV%<10%      
Three samples of known concentration were tested in twenty assays to assess.    
             
Linearity
To assess the linearity of the assay, samples were spiked with high concentrations of human COLVI in various matrices and diluted with the Sample Diluent to produce samples with values within the dynamic range of the assay.
  Sample Serum(n=4)  
1:200 Average % 86  
Range % 80-96  
1:400 Average % 97  
Range % 91-98  
1:800 Average % 98  
Range % 92-105  
1:1600 Average % 102  
Range % 86-110  
Recovery
The recovery ofhuman COLVI spiked to levels throughout the range of the assay in various matrices was evaluated. Samples were diluted prior to assay as directed in the Sample Preparation section.
Sample Type Average % Recovery Range  
Serum (n=5) 98 89-110  
EDTA plasma (n=4) 96 90-100  
             
             
Typical Data
These standard curves are provided for demonstration only. A standard curve should be generated for each set of samples assayed.
pg/ml OD1 OD2 Average Corrected  
2000 2.912 2.812 2.862 2.702  
1000 2.137 2.103 2.120 1.960  
500 1.156 1.098 1.127 0.967  
250 0.614 0.578 0.596 0.436  
125 0.372 0.346 0.359 0.199  
62.5 0.281 0.279 0.280 0.120  
31.25 0.202 0.198 0.200 0.040  
0 0.161 0.159 0.160    
Troubleshooting
and FAQs
ELISA kit FAQs
Storage Store at 2-8°C. Please refer to protocol.
Lead Time 3-5 working days

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Target Background

Function
(From Uniprot)
Collagen VI acts as a cell-binding protein.
Gene References into Functions
  1. FKBP10 interacts with collagen VI and deficiency of FKBP10 reduces lung fibroblast migration by down-regulation of collagen VI synthesis. PMID: 29673351
  2. Five SNPs in the COL6A1 (and IL17RC) genes were found to be associated with susceptibility to ossification of the posterior longitudinal ligament in Han Chinese patients. PMID: 29764467
  3. the donor splice site of COL6A1 intron 14, associated with the phenotype of Bethlem myopathy or intermediate form, is a hot spot for ColVI myopathies PMID: 28984114
  4. The polypeptide is a novel non-triple helical polypeptide of type VI collagen alpha1 chain encoded by COL6A1, or NTH alpha1(VI). PMID: 29659864
  5. Missense mutations in COL6A1, COL11A2, FGFR1, and BMP2 genetically predispose patients to ossification of posterior longitudinal ligaments. PMID: 27246988
  6. We have used RNA-Seq to identify differentially expressed genes in cultured dermal fibroblasts from 13 COL6-RD individuals (8 dominant negative and 5 null) and 6 controls. To better assess the transcriptional changes induced by abnormal collagen VI in the extracellular matrix (ECM); we compared transcriptional profiles from subjects with DN mutations and subjects with null mutations to transcriptional profiles PMID: 29244830
  7. These data demonstrate, for the first time, a functional relationship between collagens VI and XII during osteogenesis. PMID: 26753503
  8. COL6A1 may have a role in progression and outcome of clear cell renal cell carcinoma PMID: 26317545
  9. upregulated in the airways of chronic obstructive pulmonary disease patients and exposed upon epithelial desquamation PMID: 25925694
  10. is the first report of UCMD recurrence in 2 siblings due to a germline mosaic COL6 gene mutation PMID: 25978941
  11. worsening of the functional disability appeared typically after the age of 40 in 47% of our patients with Bethlem myopathy, and was frequently associated with COL6A1 exon 14 skipping PMID: 25535305
  12. The second main finding of this study was that COL6A1 rs35796750 did not associate with the risk of anterior cruciate ligament injury in the self-reported Caucasian South African cohort. PMID: 25073002
  13. Type VI collagen and activated retinal Muller cells are present in iERM. PMID: 26447986
  14. Data indicate that collagen-VI-alpha-1 (COL6A1) is expressed in all grades of glioma. PMID: 25325876
  15. Data suggest the potential role of COL6 in promoting lung neoplasia in diseased lungs where COL6 is overexpressed. PMID: 25176343
  16. Parental mosaicism was confirmed in the four families through quantitative analysis of the ratio of mutant versus wild-type allele (COL6A1, COL6A2, and COL6A3) in genomic DNA from various tissues; consistent with somatic mosaicism, parental samples had lower ratios of mutant versus wild-type allele compared with the fully heterozygote offspring. PMID: 25204870
  17. In UCDM, 1 mutation was indentified in COL6A1 in Chinese patients. PMID: 24801232
  18. These results suggest that these SNPs of BMP-2 and COL6A1 may not directly influence the expression of OPLL. PMID: 24737472
  19. Absence of ANXA2 leads to retention of COL6 in a late-Golgi, VAMP2-positive compartment. PMID: 24357721
  20. Mutations in each of the three collagen VI genes, COL6A1, COL6A2 and COL6A3, cause four types of muscle disorders: Ullrich congenital muscular dystrophy, Bethlem myopathy, limb-girdle muscular dystrophy, and autosomal recessive myosclerosis. (Review) PMID: 24443028
  21. The resulting proposed clinical classification system of collagen VI-related myopathy is unique in that it is based on the integration of both motor function and pulmonary function criteria. PMID: 24271325
  22. XPD mutations in trichothiodystrophy hamper COL6A1 expression. PMID: 23221806
  23. TP-alpha, collagen alpha-1(VI) chain and S100A9 are potential biomarkers of esophageal squamous cell carcinoma, and may play an important role in tumorigenesis and development of ESCC. PMID: 22583932
  24. the COL6A1 rs35796750 TT genotype is associated with increased performance during the bicycling of the South African Ironman triathlon PMID: 22012643
  25. the accumulation of abnormal mitochondria and sarcoplasmic reticulum is caused by a defect of autophagy and that restoration of a proper autophagic flux in Col6a1-/- muscles ameliorates these alterations. PMID: 21037586
  26. This study revealed several genotype-phenotype correlations, providing new insights into the natural history and course of ColVI myopathies. PMID: 20976770
  27. COL6 genes encoding type VI collagen PMID: 11932968
  28. Haplotype analysis clearly suggested linkage of Ullrich muscular dystrophy to the COL6A1/2 locus in two cases and to the COL6A3 loci in the third case. In the remaining nine patients, primary collagen VI involvement was excluded PMID: 12011280
  29. Bethlem myopathy is an autosomal dominantly inherited myopathy with contractures caused by mutations in the COL6A1 gene. PMID: 12374585
  30. Collagen VI deficiency might have caused electron microscopic changes of capillaries, while function of capillaries is apparently retained. PMID: 12736748
  31. a de novo heterozygous deletion of the COL6A1 gene results in a severe phenotype of classical Ullrich congenital muscular dystrophy PMID: 12840783
  32. linkage disequilibrium and association studies that SNPs in the collagen 6A1 gene (COL6A1) were strongly associated with Ossification of the posterior longitudinal ligament PMID: 12958705
  33. The failure of collagen VI to anchor the basal lamina to the interstitium is the cause of Ullrich disease. PMID: 14981181
  34. dominant mutations are common in Ullrich congenital muscular dystrophy (UCMD). PMID: 15563506
  35. we report a genotype-phenotype correlation demonstrating that heterozygous glycine substitutions in the triple-helix domain of COL6A1 are dominant and responsible for a milder Ullrich scleroatonic muscular dystrophy phenotype. PMID: 16130093
  36. COL6A1 could be responsible for the hyperostotic state, leading to ectopic bone formation in the spinal ligament. PMID: 16227896
  37. beta ig-h3 can differentially modulate the aggregation of collagen VI with biglycan and decorin PMID: 16434404
  38. Major promoter and enhancer sequences regulating COL6A1 expression are present in this bacterial artificial chromosome clone. PMID: 17334655
  39. This study identified a novel homozygous COL6A1 premature termination mutation in a UCMD patient that causes nonsense-mediated mRNA decay. PMID: 17537636
  40. This study demonstrates a homogeneous overexpression of the genes encoding for alpha1 and alpha2 chains for collagen type VI in nuchal skin of human trisomy 21 fetuses. PMID: 17602442
  41. COL6A1 may be a common susceptibility gene for ossification of the ligamentum flavum and ossification of the posterior longitudinal ligament in Chinese Han population. PMID: 18246005
  42. Study reports 10 unrelated patients with a Ullrich congenital muscular dystrophy clinical phenotype and de novo dominant negative heterozygous splice mutations in COL6A1, COL6A2 and COL6A3. PMID: 18366090
  43. Immunofluorescent labeling of collagen VI in fibroblast cultures is a useful addition to current diagnostic services for Bethlem myopathy (BM). It can be used to guide molecular genetic testing in a cost-effective and time-saving manner. PMID: 18378883
  44. Results found COL6A1 to be differentially expressed in human astrocytomas. PMID: 18551403
  45. SNP of COL6A1 were not related to radiographic progression of ankylosing spondylitis. PMID: 18634150
  46. These data indicate that collagen VI glycine mutations impair the assembly pathway in different ways and disease severity correlates with the assembly abnormality. PMID: 18825676
  47. Four patients affected by Ullrich congenital muscular dystrophy and carrying unusual mutations of COL6 genes affecting RNA splicing, were identified. PMID: 19309692

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Involvement in disease Bethlem myopathy 1 (BTHLM1); Ullrich congenital muscular dystrophy 1 (UCMD1)
Subcellular Location Secreted, extracellular space, extracellular matrix
Protein Families Type VI collagen family
Database Links

HGNC: 2211

OMIM: 120220

KEGG: hsa:1291

STRING: 9606.ENSP00000355180

UniGene: Hs.474053

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