collagen type VII alpha 1 chain
Zuletzt aktualisiert 18. Aug 2020
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Der 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
Der 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
Related patient information and medicines
Patient information leaflet
Lokalisierte Sklerodermie
Localised scleroderma causes one or more patches of hard skin. There are different types. Generalised morphoea symptoms This is a ... Causes of localised scleroderma The cause is not clear. What is known is that cells called fibroblasts make too much of a protein called collagen. Der Kollagen gets deposited in the skin, causing scarring and.
Patient information leaflet
Kann ich Candesartan und Kollagen zusammen einnehmen?
There are no known sign... It is generally considered safe to take these together. Why this happens Candesartan ist a blood pressure medication (an angiotensin II receptor blocker) that works on the hormonal system controlling blood vessels. Collagen is a protein supplement used for skin, joint, and bone health. These two substances are processed.
Patient information leaflet
Glykogenspeicherkrankheiten
Glycogen storage disorders are a group of inherited diseases. They result from a problem with one of the proteins (known as enzymes) involved in the conversion of glucose to glycogen, or the breakdown of glycogen back into glucose. They mostly tend to affect your liver and muscles. Most are diagnosed in childhood. ... Type V (McArdle's disease)..
Patient information leaflet
Kann ich Biotin und Kollagen zusammen einnehmen?
There are no known harmful interactions between biotin and collagen. In fact, they are frequently taken together in 'hair, skin, and nails' supplements because they work in different ways to support the ... Why this happens Biotin is a B-vitamin (B7) that helps the body convert nutrients into energy and supports the production of keratin. Collagen.
Patient information leaflet
Kann ich Adcal-D3 und Kollagen zusammen einnehmen?
There is no known harmful interaction between Adcal-D3 and collagen supplements. In fact, they are often used together to support bone and joint health. Why this happens Adcal-D3 provides calcium and vitamin D3, while collagen provides amino acids. These substances are processed by the body through different pathways and do not interfere with each.
Patient information leaflet
Kann ich Carbocistein und Kollagen zusammen einnehmen?
Why this happens Carbocisteine works by breaking down the chemical bonds in mucus to make it thinner and easier to cough up. Collagen is a protein used by the body for skin, joint, and bone health. These two substances are processed by the body through different pathways and do not interfere with how the other is absorbed, broken down, or used by.
Weiterführende Lektüre und Referenzen
- 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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18. Aug 2020 | Neueste Version
1 Feb 2020 | Ursprünglich veröffentlicht
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