|
| |
COL7A1
| Symbol: | COL7A1 | | Name(s): | collagen, type VII, alpha 1 (epidermolysis bullosa, dystrophic, dominant and recessive) | | Type: | protein-coding | | Organism: | Homo sapiens | | Synonyms: | EBD1, EBDCT, EBR1 | | Links: |
Pubmed,
Entrez Gene,
GeneCards,
BioGPS,
Map Viewer.
|
Gene Information from Publications |
| Publication Link |
Summary of findings |
| 12485454 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 15888141 |
Observational study of gene-disease association. (HuGE Navigator) |
| 17900868 |
Identify novel mutation in COL7A1 responsible for dominant dystrophic epidermolysis bullosa in a Chinese family. More severe phenotype observed in female members. |
| 17495952 |
Individuals with recessive dystrophic epidermolysis bullosa can develop squamous-cell carcinoma regardless of type VII collagen expression and that additional factors have a role in explaining the high incidence of tumors complicating this genodermatosis. |
| 12353709 |
A novel splice site mutation in collagen type VII gene in a Chinese family with dominant dystrophic epidermolysis bullosa pruriginosa. |
| 15774758 |
collagen VII required for Ras-driven epidermal tumorigenesis by enhancing tumor cell invasion; retention of NC1 sequences in a subset of recessive dystrophic epidermolysis bullosa patients may contribute to their susceptibility to squamous cell carcinoma |
| 16971478 |
Mutations from more than 1000 families with different forms of epidermolysis bullosa were analyzed. 242 mutations were distinct and 138 were novel, previously unreported mutations. |
| 12787118 |
May contribute to flexibility of linker of fibronectin type III domains and may affect interactions between noncollagenous 1 domain and extracellular matrix proteins. May have role in dermal-epidermal adhesion, wound healing, and skin remodeling. |
| 17229600 |
Glycine subsstitution in this protein underlies mild recessive dystrophic epidermolysis bullosa, showing that type VII collagen is tolefant of heterozygous glycine substitution. |
| 16470588 |
COL7A1 hemizygosity and a missense mutation with complex effects on splicing may be causative in recessive dystrophic epidermolysis bullosa | →View more information from publications. |
Interacting gene products |
| Interaction Type |
Gene 1 |
Gene 2 |
Interaction description |
Complex |
Publication Link |
| HPRD | Collagen, type I, alpha 1 | alpha 1 type VII collagen precursor | - | - | Pubmed |
| HPRD | alpha 1 type I collagen preproprotein | Collagen, type VII, alpha 1 | - | - | Pubmed |
| HPRD | Collagen, type IV, alpha 1 | alpha 1 type VII collagen precursor | - | - | Pubmed |
| HPRD | alpha 1 type IV collagen preproprotein | Collagen, type VII, alpha 1 | - | - | Pubmed |
| HPRD | Collagen, type VII, alpha 1 | laminin S B3 chain | - | - | Pubmed |
| HPRD | Collagen, type VII, alpha 1 | fibronectin 1 isoform 3 preproprotein | - | - | Pubmed |
| HPRD | Collagen, type VII, alpha 1 | thrombospondin 1 | - | - | Pubmed |
| HPRD | Collagen, type VII, alpha 1 | matrix metalloproteinase 2 preproprotein | - | - | Pubmed |
| HPRD | Collagen, type VII, alpha 1 | laminin alpha 5 | - | - | Pubmed |
| HPRD | Collagen, type VII, alpha 1 | laminin, gamma 2 isoform a precursor | - | - | Pubmed |
Recent Publications on COL7A1: |  |
Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: expansion of the mutation database and unusual phenotype-genotype correlations.
BACKGROUND: The current classification of recessive dystrophic... | 3rd November, 2009
| Department of Genetics, University Medical Center Groningen, University of
| J Dermatol Sci. 2009 Oct;56(1):9-18. Epub 2009 Aug 8.
DOI Direct Link |
The compound heterozygote for new/recurrent COL7A1 mutations in a Japanese patient with bullous dermolysis of the newborn.
BACKGROUND: The current classification of recessive dystrophic... | 3rd November, 2009
|
| J Dermatol Sci. 2009 Oct;56(1):66-8. Epub 2009 Jul 29.
DOI Direct Link |
Design and validation of a conformation-sensitive capillary electrophoresis system for mutation identification of the COL7A1 gene with automated peak comparison.
Dystrophic epidermolysis bullosa is a heritable skin disease in which... | 10th October, 2009
| Department of Genetics, University Medical Center Groningen, University of
| Genet Test Mol Biomarkers. 2009 Oct;13(5):589-97.
DOI Direct Link |
Increased invasive behaviour in cutaneous squamous cell carcinoma with loss of basement-membrane type VII collagen.
Type VII collagen (ColVII) is the main component of anchoring fibrils,... | 15th September, 2009
| Centre for Cutaneous Research, Cancer Research UK Skin Tumour Laboratory,
| J Cell Sci. 2009 Jun 1;122(Pt 11):1788-99. Epub 2009 May 12.
DOI Direct Link |
Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica.
Dominant-negative interference by glycine substitution mutations in the... | 9th September, 2009
| Regenerative Medicine Unit, CIEMAT-CIBERER, Madrid, Spain.
| Hum Genet. 2009 Aug;126(2):335.
|
→View more research publications. |
COL7A1 results (if any) from reagent suppliers | 
|
COL7A1 (4D2) Antibody sc-33710
COL7A1 shRNA (h) Lentiviral Particles, sc-43066-V, 200 µl ... COL7A1 (4D2): sc- 33710. Immunofluorescence staining of normal human cornea frozen section ...
http://www.scbt.com/datasheet-33710-col7a1-4d2-antibody.html...
|
 |
Antibodies to Extracellular Matrix Proteins
COL7A1(1294), pig, goat, monkey, marmoset, bovine, guinea pig, sheep, human, DB, ELISA (i), ICC, IF (i), WB, pricing. C7974, Monoclonal Anti-Collagen, ...
http://www.sigmaaldrich.com/etc/controller/controller-page.h...
|
 |
Collagen Antibody / Collagen Antibodies
COL7A1 (H-120) Antibody, sc-20774, rabbit IgG, 2641-2760 (h), WB, IP, IF, ELISA ... COL7A1 (LH7.2) Antibody, sc-53226, mouse IgG3, FL (h), WB, IF, h, pig ...
http://www.scbt.com/table-collagen.html...
|
 |
Chapter 4, In Vitro Protein Expression Guide, BR053
Epidermolysis Bullosa with Muscular Dystrophy. PLEC1. 16,44–46. Dystrophic Epidermolysis Bullosa. COL7A1. 43. Breast Cancers, Gliomas, Melanomas. PTEN/
MMAC1 ...
http://www.promega.com/guides/ive_guide/ivex_chp4.pdf...
|
 |
COL7A1 siRNA (m) sc-43067
COL7A1 siRNA (m) sc-43067 COL7A1 siRNA (m) sc-43067.
http://www.scbt.com/ko/datasheet-43067-col7a1-sirna-m.html...
|
 |
Collagen
Three α1(VII), COL7A1. Type VIII, A nonfibrillar short-chain collagen associated vascular endothelial cells and connective tissue. Three α1(VIII), COL8A1, ...
http://www.sigmaaldrich.com/life-science/metabolomics/enzyme...
|
 |
COL7A1 (4D2) Antibody sc-33710
COL7A1 (4D2) 抗体sc-33710 COL7A1 (4D2) Antibody sc-33710.
http://www.scbt.com/zh/datasheet-33710-col7a1-4d2-antibody.h...
|
 |
Search Bioportfolio and other Life Science Sites for COL7A1,
or search for COL7A1 on BioPortfolio's antibody search engine.
This page has been viewed 235 times
Recent Search Terms used to find this page: collagen alpha VII antibodies | amino acid sequence for alpha 1 type I collagen preproprotein | patent collagen type VII | Epidermolysis Bullosa stem cell spain | col7a1 antibody | col7a1 Monoclonal Antibodies mouse | col7a1 Monoclonal Antibodies | col7a1 Monoclonal Antibodies | col7a1 Monoclonal Antibodies | .
Resources from the NCBI used on this page, NCBI's standard disclaimer applies.
|
