collagen type XVII alpha 1 chain
آخر تحديث 18 Aug 2020
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ال COL17A1 gene provides instructions for making a protein that is used to assemble type XVII 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 XVII collagen plays an essential role in strengthening and stabilizing the skin.
Normal function
ال COL17A1 gene provides instructions for making a protein that is used to assemble type XVII 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 XVII collagen plays an essential role in strengthening and stabilizing the skin.
The protein produced from the COL17A1 gene is known as a pro-α1(XVII) chain. Three identical pro-α1(XVII) chains twist together to form a triple-stranded, ropelike molecule known as a procollagen. Procollagen molecules are released from the cell and processed by enzymes to remove extra protein segments from the ends. Once these molecules are processed, they arrange themselves into long, thin bundles of mature type XVII collagen.
Type XVII collagen is a major component of hemidesmosomes, which are microscopic structures on the inner surface of the top layer of skin (the epidermis). These structures help to anchor the epidermis to underlying layers of skin. Type XVII collagen is critical for the stability of hemidesmosomes, and therefore it plays an important role in holding the layers of skin together.
Conditions referring to this gene or chromosome
Other names
alpha 1 type XVII collagen
BA16H23.2
BP180
BPAG2
bullous pemphigoid antigen 2 (180kD)
COHA1_HUMAN
collagen type XVII alpha 1
collagen XVII, alpha-1 polypeptide
collagen, type XVII, alpha 1
FLJ60881
KIAA0204
LAD-1
Related patient information and medicines
Patient information leaflet
تصلب الجلد الموضعي
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. ال الكولاجين gets deposited in the skin, causing scarring and.
Patient information leaflet
هل يمكنني تناول كانديسارتان والكولاجين معًا؟
There are no known sign... It is generally considered safe to take these together. Why this happens Candesartan is 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
هل يمكنني تناول البيوتين والكولاجين معًا؟
لا توجد 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
هل يمكنني تناول Adcal-D3 والكولاجين معًا؟
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
هل يمكنني تناول الكولاجين والتاموكسيفين معًا؟
There is no known direct interaction between collagen supplements and tamoxifen. Collagen is a protein found naturally in the body, و taking it as a supplement is generally considered safe alongside this medication. Why this happens Collagen is broken down into amino acids in the digestive tract, similar to eating protein-rich food. It does not.
Patient information leaflet
هل يمكنني تناول الكولاجين وأوميغا-3 معًا؟
There are no known harmful interactions between collagen and omega-3 supplements. لماذا يحدث هذا Collagen هو a protein that هو broken down into amino acids in the digestive tract, while أوميغا-3 is a fatty acid. ...hecker helps you check whether your prescriptions, over-the-counter medicines, and supplements are safe to take togetherDisclaimer.
قراءة إضافية ومراجع
- collagen type XVII alpha 1 chain; MedlinePlus, National Library of Medicine.
- Bauer JW, Lanschuetzer C. Type XVII collagen gene mutations in junctional epidermolysis bullosa and prospects for gene therapy. Clin Exp Dermatol. 2003 Jan;28(1):53-60. doi: 10.1046/j.1365-2230.2003.01192.x.
- Franzke CW, Has C, Schulte C, Huilaja L, Tasanen K, Aumailley M, Bruckner-Tuderman L. C-terminal truncation impairs glycosylation of transmembrane collagen XVII and leads to intracellular accumulation. J Biol Chem. 2006 Oct 6;281(40):30260-8. doi: 10.1074/jbc.M604464200. Epub 2006 Aug 9.
- Fu CL, Giudice GJ, Van den Bergh F. Protein structural analysis of BP180 mutant isoforms linked to non-Herlitz junctional epidermolysis bullosa. J Invest Dermatol. 2006 Jan;126(1):232-4. doi: 10.1038/sj.jid.5700024. No abstract available.
- Gatalica B, Pulkkinen L, Li K, Kuokkanen K, Ryynanen M, McGrath JA, Uitto J. Cloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosa. Am J Hum Genet. 1997 Feb;60(2):352-65.
- Nakamura H, Sawamura D, Goto M, Nakamura H, Kida M, Ariga T, Sakiyama Y, Tomizawa K, Mitsui H, Tamaki K, Shimizu H. Analysis of the COL17A1 in non-Herlitz junctional epidermolysis bullosa and amelogenesis imperfecta. Int J Mol Med. 2006 Aug;18(2):333-7.
- Pasmooij AM, Pas HH, Jansen GH, Lemmink HH, Jonkman MF. Localized and generalized forms of blistering in junctional epidermolysis bullosa due to COL17A1 mutations in the Netherlands. Br J Dermatol. 2007 May;156(5):861-70. doi: 10.1111/j.1365-2133.2006.07730.x. Epub 2007 Jan 30.
- Pulkkinen L, Uitto J. Mutation analysis and molecular genetics of epidermolysis bullosa. Matrix Biol. 1999 Feb;18(1):29-42. doi: 10.1016/s0945-053x(98)00005-5.
- Ruzzi L, Pas H, Posteraro P, Mazzanti C, Didona B, Owaribe K, Meneguzzi G, Zambruno G, Castiglia D, D'Alessio M. A homozygous nonsense mutation in type XVII collagen gene (COL17A1) uncovers an alternatively spliced mRNA accounting for an unusually mild form of non-Herlitz junctional epidermolysis bullosa. J Invest Dermatol. 2001 Jan;116(1):182-7. doi: 10.1046/j.1523-1747.2001.00229.x.
- Varki R, Sadowski S, Pfendner E, Uitto J. Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants. J Med Genet. 2006 Aug;43(8):641-52. doi: 10.1136/jmg.2005.039685. Epub 2006 Feb 10.
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المقال متاح أيضًا باللغة الإنجليزية, الألمانية, إسبانية, الفرنسية, إيطالي, البرتغالية, الهندية, العبرية, العربية ,، و السويدية.
18 Aug 2020 | أحدث إصدار
1 Sept 2009 | نُشر في الأصل
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