COL7A1

Collagen, type VII, alpha 1 (epidermolysis bullosa, dystrophic, dominant and recessive)
Identifiers
Symbols	COL7A1 ; EBD1; EBDCT; EBR1
External IDs	Template:OMIM5 Template:MGI HomoloGene: 73
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Collagen, type VII, alpha 1 (epidermolysis bullosa, dystrophic, dominant and recessive), also known as COL7A1, is a human gene.

This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an acquired form of this disease can result from an autoimmune response made to type VII collagen.

See also

• Collagen

Further reading

• Mecklenbeck S, Hammami-Hauasli N, Höpfner B; et al. (1999). "Clustering of COL7A1 mutations in exon 73: implications for mutation analysis in dystrophic epidermolysis bullosa". J. Invest. Dermatol. 112 (3): 398–400. doi:10.1046/j.1523-1747.1999.00518.x. PMID 10084325.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Dang N, Klingberg S, Marr P, Murrell DF (2007). "Review of collagen VII sequence variants found in Australasian patients with dystrophic epidermolysis bullosa reveals nine novel COL7A1 variants". J. Dermatol. Sci. 46 (3): 169–78. doi:10.1016/j.jdermsci.2007.02.006. PMID 17425959.CS1 maint: Multiple names: authors list (link)
• Christiano AM, Rosenbaum LM, Chung-Honet LC; et al. (1993). "The large non-collagenous domain (NC-1) of type VII collagen is amino-terminal and chimeric. Homology to cartilage matrix protein, the type III domains of fibronectin and the A domains of von Willebrand factor". Hum. Mol. Genet. 1 (7): 475–81. PMID 1307247.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gammon WR, Abernethy ML, Padilla KM; et al. (1993). "Noncollagenous (NC1) domain of collagen VII resembles multidomain adhesion proteins involved in tissue-specific organization of extracellular matrix". J. Invest. Dermatol. 99 (6): 691–6. PMID 1469284.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Tanaka T, Takahashi K, Furukawa F, Imamura S (1992). "Molecular cloning and characterization of type VII collagen cDNA". Biochem. Biophys. Res. Commun. 183 (3): 958–63. PMID 1567409.CS1 maint: Multiple names: authors list (link)
• Parente MG, Chung LC, Ryynänen J; et al. (1991). "Human type VII collagen: cDNA cloning and chromosomal mapping of the gene". Proc. Natl. Acad. Sci. U.S.A. 88 (16): 6931–5. PMID 1871109.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Seltzer JL, Eisen AZ, Bauer EA; et al. (1989). "Cleavage of type VII collagen by interstitial collagenase and type IV collagenase (gelatinase) derived from human skin". J. Biol. Chem. 264 (7): 3822–6. PMID 2537292.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Fine JD, Johnson L, Wright T (1989). "Epidermolysis bullosa simplex superficialis. A new variant of epidermolysis bullosa characterized by subcorneal skin cleavage mimicking peeling skin syndrome". Archives of dermatology. 125 (5): 633–8. PMID 2653224.CS1 maint: Multiple names: authors list (link)
• Bart BJ, Gorlin RJ, Anderson VE, Lynch FW (1966). "Congenital localized absence of skin and associated abnormalities resembling epidermolysis bullosa. A new syndrome". Archives of dermatology. 93 (3): 296–304. PMID 5910871.CS1 maint: Multiple names: authors list (link)
• Tanaka T, Furukawa F, Imamura S (1994). "Epitope mapping for epidermolysis bullosa acquisita autoantibody by molecularly cloned cDNA for type VII collagen". J. Invest. Dermatol. 102 (5): 706–9. PMID 7513737.CS1 maint: Multiple names: authors list (link)
• Christiano AM, Morricone A, Paradisi M; et al. (1995). "A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa". J. Invest. Dermatol. 104 (3): 438–40. PMID 7861014.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Christiano AM, Suga Y, Greenspan DS; et al. (1995). "Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa". J. Clin. Invest. 95 (3): 1328–34. PMID 7883979.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Lapiere JC, Chen JD, Iwasaki T; et al. (1994). "Type VII collagen specifically binds fibronectin via a unique subdomain within the collagenous triple helix". J. Invest. Dermatol. 103 (5): 637–41. PMID 7963647.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Christiano AM, Greenspan DS, Lee S, Uitto J (1994). "Cloning of human type VII collagen. Complete primary sequence of the alpha 1(VII) chain and identification of intragenic polymorphisms". J. Biol. Chem. 269 (32): 20256–62. PMID 8051117.CS1 maint: Multiple names: authors list (link)
• Christiano AM, Hoffman GG, Chung-Honet LC; et al. (1994). "Structural organization of the human type VII collagen gene (COL7A1), composed of more exons than any previously characterized gene". Genomics. 21 (1): 169–79. doi:10.1006/geno.1994.1239. PMID 8088784.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Christiano AM, Ryynänen M, Uitto J (1994). "Dominant dystrophic epidermolysis bullosa: identification of a Gly-->Ser substitution in the triple-helical domain of type VII collagen". Proc. Natl. Acad. Sci. U.S.A. 91 (9): 3549–53. PMID 8170945.CS1 maint: Multiple names: authors list (link)
• Greenspan DS, Byers MG, Eddy RL; et al. (1993). "Localization of the human collagen gene COL7A1 to 3p21.3 by fluorescence in situ hybridization". Cytogenet. Cell Genet. 62 (1): 35–6. PMID 8422754.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Greenspan DS (1993). "The carboxyl-terminal half of type VII collagen, including the non-collagenous NC-2 domain and intron/exon organization of the corresponding region of the COL7A1 gene". Hum. Mol. Genet. 2 (3): 273–8. PMID 8499916.
• Christiano AM, Greenspan DS, Hoffman GG; et al. (1993). "A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa". Nat. Genet. 4 (1): 62–6. doi:10.1038/ng0593-62. PMID 8513326.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Christiano AM, Lee JY, Chen WJ; et al. (1996). "Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen". Hum. Mol. Genet. 4 (9): 1579–83. PMID 8541842.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)