collagen type VII alpha 1 chain
Last updated 18 Aug 2020
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The COL7A1 gene provides instructions for making a protein called pro-α1(VII) chain that is used to assemble a larger protein called type VII collagen. Collagens are a family of proteins that strengthen and support connective tissues, such as skin, bone, tendons, and ligaments, throughout the body. In particular, type VII collagen plays an essential role in strengthening and stabilizing the skin.
Normal function
The COL7A1 gene provides instructions for making a protein called pro-α1(VII) chain that is used to assemble a larger protein called type VII collagen. Collagens are a family of proteins that strengthen and support connective tissues, such as skin, bone, tendons, and ligaments, throughout the body. In particular, type VII collagen plays an essential role in strengthening and stabilizing the skin.
Three pro-α1(VII) chains twist together to form a triple-stranded, ropelike molecule known as a procollagen. Cells release (secrete) procollagen molecules, and enzymes cut extra protein segments from the ends. Then the molecules arrange themselves into long, thin bundles of mature type VII collagen.
Type VII collagen is the major component of structures in the skin called anchoring fibrils. These fibrils are found in a region known as the epidermal basement membrane zone, which is a two-layer membrane located between the top layer of skin, called the epidermis, and an underlying layer called the dermis. Anchoring fibrils hold the two layers of skin together by connecting the epidermal basement membrane to the dermis.
Conditions referring to this gene or chromosome
Other names
alpha 1 type VII collagen
CO7A1_HUMAN
collagen type VII alpha 1
collagen VII, alpha-1 polypeptide
collagen, type VII, alpha 1
collagen, type VII, alpha 1 (epidermolysis bullosa, dystrophic, dominant and recessive)
EBD1
EBDCT
EBR1
LC collagen
long chain collagen
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Further reading and references
- collagen type VII alpha 1 chain; MedlinePlus, National Library of Medicine.
- Almaani N, Liu L, Dopping-Hepenstal PJ, Lai-Cheong JE, Wong A, Nanda A, Moss C, Martinez AE, Mellerio JE, McGrath JA. Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa. Acta Derm Venereol. 2011 May;91(3):262-6. doi: 10.2340/00015555-1053.
- Bruckner-Tuderman L, Hopfner B, Hammami-Hauasli N. Biology of anchoring fibrils: lessons from dystrophic epidermolysis bullosa. Matrix Biol. 1999 Feb;18(1):43-54. doi: 10.1016/s0945-053x(98)00007-9.
- Chen Z, Bu W, Feng S, Wang H. Bart's syndrome in a family affected three consecutive generations with mutation c.6007G>A in COL7A1. J Dermatol. 2018 Aug;45(8):1000-1002. doi: 10.1111/1346-8138.14352. Epub 2018 May 3.
- Dang N, Klingberg S, Marr P, Murrell DF. Review of collagen VII sequence variants found in Australasian patients with dystrophic epidermolysis bullosa reveals nine novel COL7A1 variants. J Dermatol Sci. 2007 Jun;46(3):169-78. doi: 10.1016/j.jdermsci.2007.02.006. Epub 2007 Apr 10.
- Gardella R, Castiglia D, Posteraro P, Bernardini S, Zoppi N, Paradisi M, Tadini G, Barlati S, McGrath JA, Zambruno G, Colombi M. Genotype-phenotype correlation in italian patients with dystrophic epidermolysis bullosa. J Invest Dermatol. 2002 Dec;119(6):1456-62. doi: 10.1046/j.1523-1747.2002.19606.x.
- Han YM, Lee N, Byun SY, Cheon SJ, Ko HC. Bart's Syndrome with Novel Frameshift Mutations in the COL7A1 Gene. Fetal Pediatr Pathol. 2019 Feb;38(1):72-79. doi: 10.1080/15513815.2018.1543370. Epub 2018 Dec 7.
- Jarvikallio A, Pulkkinen L, Uitto J. Molecular basis of dystrophic epidermolysis bullosa: mutations in the type VII collagen gene (COL7A1). Hum Mutat. 1997;10(5):338-47. doi: 10.1002/(SICI)1098-1004(1997)10:53.0.CO;2-B.
- Kern JS, Kohlhase J, Bruckner-Tuderman L, Has C. Expanding the COL7A1 mutation database: novel and recurrent mutations and unusual genotype-phenotype constellations in 41 patients with dystrophic epidermolysis bullosa. J Invest Dermatol. 2006 May;126(5):1006-12. doi: 10.1038/sj.jid.5700219.
- Lucky AW, Pope E, Crawford S. Dystrophic Epidermolysis Bullosa. 2006 Aug 21 [updated 2026 Aug 18]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1304/
- Ortiz-Urda S, Garcia J, Green CL, Chen L, Lin Q, Veitch DP, Sakai LY, Lee H, Marinkovich MP, Khavari PA. Type VII collagen is required for Ras-driven human epidermal tumorigenesis. Science. 2005 Mar 18;307(5716):1773-6. doi: 10.1126/science.1106209.
- Pourreyron C, Cox G, Mao X, Volz A, Baksh N, Wong T, Fassihi H, Arita K, O'Toole EA, Ocampo-Candiani J, Chen M, Hart IR, Bruckner-Tuderman L, Salas-Alanis JC, McGrath JA, Leigh IM, South AP. Patients with recessive dystrophic epidermolysis bullosa develop squamous-cell carcinoma regardless of type VII collagen expression. J Invest Dermatol. 2007 Oct;127(10):2438-44. doi: 10.1038/sj.jid.5700878. Epub 2007 May 10.
- Sawamura D, Goto M, Yasukawa K, Sato-Matsumura K, Nakamura H, Ito K, Nakamura H, Tomita Y, Shimizu H. Genetic studies of 20 Japanese families of dystrophic epidermolysis bullosa. J Hum Genet. 2005;50(10):543-546. doi: 10.1007/s10038-005-0290-4. Epub 2005 Sep 28.
- Varki R, Sadowski S, Uitto J, Pfendner E. Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes. J Med Genet. 2007 Mar;44(3):181-92. doi: 10.1136/jmg.2006.045302. Epub 2006 Sep 13.
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