Human Collagen alpha-1(VII) chain (COL7A1) ELISA kit

Instructions
Code CSB-EL005754HU
Size 96T,5×96T,10×96T
Trial Size 24T ELISA kits trial application
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Product Details

Target Name collagen, type VII, alpha 1
Alternative Names Alpha 1 type VII collagen ELISA Kit; CO7A1_HUMAN ELISA Kit; Col7a1 ELISA Kit; Collagen 7 ELISA Kit; Collagen alpha 1(VII) chain ELISA Kit; Collagen alpha-1(VII) chain ELISA Kit; Collagen type VII alpha 1 ELISA Kit; Collagen VII alpha 1 polypeptide ELISA Kit; CollagenVII ELISA Kit; EBD 1 ELISA Kit; EBD1 ELISA Kit; EBDCT ELISA Kit; EBR 1 ELISA Kit; EBR1 ELISA Kit; LC collagen ELISA Kit; Long chain collagen ELISA Kit; Long-chain collagen ELISA Kit
Abbreviation COL7A1
Uniprot No. Q02388
Species Homo sapiens (Human)
Sample Types serum, plasma, tissue homogenates
Detection Range 0.312 ng/mL-20 ng/mL
Sensitivity 0.078 ng/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 COL7A1 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)  
1:1 Average % 90  
Range % 88-93  
1:2 Average % 96  
Range % 95-101  
1:4 Average % 102  
Range % 97-105  
1:8 Average % 89  
Range % 82-96  
Recovery
The recovery of human COL7A1 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) 91 89-95  
EDTA plasma (n=4) 101 98-104  
             
             
Typical Data
These standard curves are provided for demonstration only. A standard curve should be generated for each set of samples assayed.
ng/ml OD1 OD2 Average Corrected  
20 2.454 2.654 2.554 2.392  
10 2.075 2.222 2.149 1.987  
5 1.439 1.540 1.490 1.328  
2.5 0.879 0.857 0.868 0.706  
1.25 0.625 0.648 0.637 0.475  
0.625 0.409 0.444 0.427 0.265  
0.312 0.292 0.299 0.296 0.134  
0 0.157 0.166 0.162    
Troubleshooting
and FAQs
ELISA kit FAQs
Storage Store at 2-8°C. Please refer to protocol.
Lead Time 5-7 working days

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 Q&A
Q:

Per customers request, please provide the following information regarding Human Collagen alpha-1 (VII) chain, COL7A1 ELISA Kit (CSB-EL005754HU)
1)The active ingredient of the stop solution and its concentration ?
2)The type, concentration, and state (liquid/lyophilized) of the preservatives used ?
3) If the components are lyophilized, what is the concentration prior to reconstitution (i.e. mass of preservative used/ total mass of lyophilized vial contents)?
4)Expression host of the standards ?
5)Which components have H202 with the concentration of H202 in each, if any?
6) Are there any components that contain hydrogen peroxide & Urea hydrogen peroxide (Carbamide peroxide) in any of the components in this kit?
7) If yes, which components contain hydrogen peroxide & Urea hydrogen peroxide (Carbamide peroxide) and the concentration?

A:
Thanks for your inquiry!
CSB-EL005754HU
Stop solution: 4N sulfuric acid;
Preservative: liquid proclin 300(1:3000) ;
Standard:NS0-derived recombinant protein. The concentration after reconstitution is 20 ng/m;
The kit doesn't contain hydrogen peroxide & Urea hydrogen peroxide.
Pls let me know if you have any further questions. Thank you.

Target Background

Function
(From Uniprot)
Stratified squamous epithelial basement membrane protein that forms anchoring fibrils which may contribute to epithelial basement membrane organization and adherence by interacting with extracellular matrix (ECM) proteins such as type IV collagen.
Gene References into Functions
  1. Case report of 2 potentially pathogenic variants in COL7A1 occurring on the same allele in members of a family with epidermolysis bullosa pruriginosa and autosomal dominant inheritance. PMID: 29504492
  2. In summary, we present 7 novel COL7A1 mutations in a cohort of 17 Mexican RDEB patients, expanding the mutation spectrum in this disease. PMID: 29473190
  3. Case Report: Epidermolysis ullosa acquisita with previously unrecognized mild dystrophic EB and biallelic COL7A1 missense mutations. PMID: 29182795
  4. Mutation in COL7A1 gene is associated with Recessive Dystrophic Epidermolysis Bullosa. PMID: 29531004
  5. High chimeric COL7A1-UCN2 recurrence is associated with cancer stem cell transition, promoted epithelial-mesenchymal transition in laryngeal cancer. PMID: 29499655
  6. three unrelated patients with two identical pathogenic compound heterozygous mutations in the COL7A1 gene developed different clinical forms of dystrophic epidermolysis bullosa-epidermolysis bullosa pruriginosa and mild recessive non-Hallopeau-Siemens. PMID: 29272047
  7. Type VII collagen is distributed particularly at the strained parts of the accommodation system. Type VII collagen was associated with various basement membranes and with ciliary zonules. PMID: 29490344
  8. specifically binds and sequesters the innate immune activator cochlin in the lumen of lymphoid conduits PMID: 29305555
  9. COL7A1 editing via CRISPR/Cas9 in recessive dystrophic epidermolysis bullosa patients' keratinocytes in vitro has been reported. PMID: 28800953
  10. Patients with RDEB carry mutations in the COL7A1 gene encoding for type VII collagen, the main component of anchoring fibrils, microstructures responsible for the anchorage of the epidermis to the underlying dermis. [review] PMID: 28126522
  11. expression restored to recessive dystrophic epidermolysis bullosa skin by topical gene therapy PMID: 27117059
  12. we have identified a novel glycine substitution mutation of the COL7A1 gene in two unrelated Scottish families with a DDEB phenotype. This mutation abolishes the donor splice site and results in in-frame exon skipping. This leads to dominant negative interference between the wild-type and truncated-type collagen proteins resulting in a mild phenotype. PMID: 27790721
  13. Case Report: glycine substitution specific to COL7A1, exon 110, was identified in a Chinese family with epidermolysis bullosa pruriginosa. PMID: 28164502
  14. COL7A1 harbored mutations in the overwhelming majority of patients with dystrophic epidermolysis bullosa, and most of them in this Iranian cohort were consistent with autosomal recessive inheritance. Ninety percent of these mutations were homozygous recessive, reflecting consanguinity in these families. PMID: 27899325
  15. miR-29 Regulates COL7A1 in Recessive Dystrophic Epidermolysis Bullosa, directly through targeting its 3' untranslated region at two distinct seed regions and indirectly through targeting an essential transcription factor required for basal COL7A1 expression, SP1. PMID: 27328306
  16. A total of 50% of the pro-alpha1 (VII) procollagen chains will contain the dominant COL7A1 mutation if a DDEB patient carries one mutant COL7A1 in 100% of skin cells, which will lead to dystrophic epidermolysis bullosa PMID: 26289024
  17. The results in these two brothers show that COL7A1 mutation leads to persistent blistering in adulthood indicating that DEB may persist throughout life in a mild form. PMID: 26595603
  18. This study is conducive to highlighting the phenotypic diversity of EBP, expanding the database on COL7A1 mutations in EBP and laying the foundation for this family's prenatal genetic counselling. PMID: 25556825
  19. TANGO1 is thus pivotal in concentrating procollagen VII in the lumen and recruiting ERGIC membranes on the cytoplasmic surface of the endoplasmic reticulum. PMID: 26568311
  20. Novel dystrophic epidermolysis bullosa COL7a1 framshift mutation c.5493delG (p.K1831Nfs*10) in exon 64 leads to a premature termination codon located 10 amino acids downstream in exon 64 (p.K1831Nfs*10) and is expected to result in a loss of function. PMID: 26586712
  21. In conclusion, we identified a Japanese founder recurrent mutation of c.6216 + 5G > T, inducing aberrant splicing of COL7A1 and tending to cause a mild phenotype of recessive dystrophic epidermolysis bullosa PMID: 26472200
  22. COL7A1 mutations have a role in Recessive Dystrophic Epidermolysis Bullosa and can be corrected meganuclease-mediated homology-directed repair PMID: 26897595
  23. Type VII collagen suppresses TGFbeta signaling and angiogenesis in cutaneous SCC (squamous cell carcinoma). Patients with recessive dystrophic epidermolysis bullosa (RDEB) SCC may benefit from anti-angiogenic therapy. PMID: 26476432
  24. COL7A1 mutation was diagnosed with next generation sequencing in patient with dystrophic epidermolysis bullosa. PMID: 25425313
  25. Collagen Type VII missense mutation is responsible for the development of recessive bullous epidermolysis. PMID: 25639640
  26. A novel dominantnegative heterozygous acceptor splice site mutation in the COL7A1 gene (IVS671G>T) was found in both our patient and his youngest son. PMID: 25566895
  27. Gene therapy is successful in the treatment of hereditary epidermolysis bullosa dystrophica. PMID: 26066885
  28. autoantibodies to COL7, independent of the targeted epitopes, induce blisters both ex vivo and in vivo PMID: 25689103
  29. Results suggest that In children with a moderate form of DEB with no or moderate skin fragility, a glycine substitution near the THD interruption domain of the collagen VII leading to thermolabile protein could explain this phenomenon PMID: 24252097
  30. The central collagenous domain of Col7 contains several interruptions of the collagen triple helix PMID: 24810542
  31. anti-type VII collagen autoantibodies fluctuated in parallel with disease activity in epidermolysis bullosa acquisita PMID: 24127822
  32. Study demonstrated that versican, TGFbeta1, Col7A1 and ITGbeta3 are up-regulated in isolated Cancer stem cells. PMID: 24927163
  33. Case Report: hot spot mutation c.6127G>A in COL7A1 leads to dominant dystrophic epidermolysis bullosa associated with intracellular accumulation of pro-collagean VII. PMID: 24794830
  34. TGM2 was identified as a stable interaction partner of collagen VII and is reduced in recessive dystrophic epidermolysis bullosa. PMID: 24732400
  35. The mutations detected in our 17 DEB patients highlight the presence of both mild (DDEB) and severe phenotypes (RDEB-O and RDEB-sev gen), confirming that a more severe involvement of the oropharyngeal mucosa occurs in RDEB. PMID: 24210835
  36. SLCO1B3 expression and promoter activity are modulated by COL7A1 in tumor keratinocytes isolated from recessive dystrophic epidermolysis bullosa. PMID: 24357722
  37. Bullous dermolysis of the newborn (BDN) is a subtype of dystrophic epidermolysis bullosa caused by mutations in type VII collagen resulting in disorganized anchoring fibrils and sublamina densa blister formation. PMID: 24117545
  38. We show that revertant recessive dystrohic epidermolysis bullosa keratinocytes expressing functional C7 can be reprogrammed into induced pluripotent stem cells and self-corrected keratinocytes can be differentiated into epidermal or hematopoietic cells. PMID: 24317394
  39. analysis of COL7A1 mutations in patients with recessive dystrophic epidermolysis bullosa PMID: 24213372
  40. data further enhance the mutation spectrum of the LAMB3 and the COL7A1 genes, and also underscore the crucial roles of these genes in pathogenesis of epidermolysis bullosa PMID: 23769655
  41. Our long-term observational study showed that this in-frame exon skipping mutation was conversely highly predictive of the pruriginosa phenotype and characterized by a very variable phenotype in terms of severity of disease. PMID: 23688405
  42. Data suggest that, of the five basement membrane types present in term placental tissue and fetal membranes, just one, that associated with amnion epithelium, expresses type VII collagen. PMID: 23834951
  43. immortalized and cloned recessive dystrophic epidermolysis bullosa keratinocytes carrying the c.6527insC mutation PMID: 23947675
  44. We report the first case of HS-RDEB homozygous PTC mutations of 5818delC in both COL7A1 alleles. PMID: 23679163
  45. Novel deletion mutation (c.3717del5) in COL7A1 in a patient with recessive dystrophic epidermolysis bullosa. PMID: 22974128
  46. We describe three families with multiple affected members in which epidermolysis bullosa prurigosa variant shows autosomal-dominance and all three previously unreported COL7A1 mutations were identified. PMID: 23106673
  47. The wide diversity of clinical phenotypes with one underlying genotype demonstrates that COL7A1 mutations are incompletely penetrant and strongly suggests that other genetic and environmental factors influence clinical presentation. PMID: 22515571
  48. Loss of collagen VII has a global impact on the cellular microenvironment in recessive dystrophic epidermolysis bullosa patients. PMID: 23591773
  49. Mutation in COL7A1 caused a broad range of severity of disease in a family with pretibial epidermolysis bullosa. PMID: 23624125
  50. We report six Chinese cases with Epidermolysis Bullosa Pruriginosa, who had four novel and two previously reported mutations leading to glycine substitutions of COL7A1. PMID: 23397949

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Involvement in disease Epidermolysis bullosa dystrophica, autosomal dominant (DDEB); Epidermolysis bullosa dystrophica, autosomal recessive (RDEB); Transient bullous dermolysis of the newborn (TBDN); Epidermolysis bullosa dystrophica, pretibial type (PR-DEB); Epidermolysis bullosa dystrophica, Bart type (B-DEB); Epidermolysis bullosa pruriginosa (EBP); Nail disorder, non-syndromic congenital, 8 (NDNC8); Epidermolysis bullosa dystrophica, with subcorneal cleavage (EBDSC)
Subcellular Location Secreted, extracellular space, extracellular matrix, basement membrane
Database Links

HGNC: 2214

OMIM: 120120

KEGG: hsa:1294

STRING: 9606.ENSP00000332371

UniGene: Hs.476218

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