collagen type I alpha 1 chain
آخر تحديث 21 Mar 2023
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ال COL1A1 gene provides instructions for making part of a large molecule called type I collagen. Collagens are a family of proteins that strengthen and support many tissues in the body, including cartilage, bone, tendon, skin, and the white part of the eye (the sclera). Type I collagen is the most abundant form of collagen in the human body.
Normal function
ال COL1A1 gene provides instructions for making part of a large molecule called type I collagen. Collagens are a family of proteins that strengthen and support many tissues in the body, including cartilage, bone, tendon, skin, and the white part of the eye (the sclera). Type I collagen is the most abundant form of collagen in the human body.
A component of type I collagen called the pro-α1(I) chain is produced from the COL1A1 gene. Collagens begin as rope-like procollagen molecules that are each made up of three chains. Type I collagen is composed of two pro-α1(I) chains and one pro-α2(I) chain (which is produced from the COL1A2 gene).
The triple-stranded procollagen molecules are processed by enzymes in a series of steps inside and outside the cell to create mature collagen. The collagen molecules then arrange themselves into long, thin fibrils that form stable interactions (cross-links) with one another in the spaces between cells. The cross-links result in the formation of very strong type I collagen fibers.
Conditions referring to this gene or chromosome
Other names
alpha 1 type I collagen preproprotein
CO1A1_HUMAN
COL1A1 protein
collagen I, alpha-1 polypeptide
collagen of skin, tendon and bone, alpha-1 chain
collagen type I alpha 1
collagen, type I, alpha 1
type I collagen alpha 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 هو 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؟
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
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 ... 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 other's absorption or.
Patient information leaflet
هل يمكنني تناول الكاربوسيستين والكولاجين معًا؟
It is generally considered safe to take these two substances together. 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.
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 is broken down into amino acids in the digestive tract, while أوميغا-3 is a fatty acid. Disclaimer This information is for general educational purposes only and should not be relied upon as a substitute for professional.
قراءة إضافية ومراجع
- collagen type I alpha 1 chain; MedlinePlus, National Library of Medicine.
- Brady AF, Demirdas S, Fournel-Gigleux S, Ghali N, Giunta C, Kapferer-Seebacher I, Kosho T, Mendoza-Londono R, Pope MF, Rohrbach M, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Zschocke J, Malfait F. The Ehlers-Danlos syndromes, rare types. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):70-115. doi: 10.1002/ajmg.c.31550.
- Gensure RC, Makitie O, Barclay C, Chan C, Depalma SR, Bastepe M, Abuzahra H, Couper R, Mundlos S, Sillence D, Ala Kokko L, Seidman JG, Cole WG, Juppner H. A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders. J Clin Invest. 2005 May;115(5):1250-7. doi: 10.1172/JCI22760.
- Greco A, Fusetti L, Villa R, Sozzi G, Minoletti F, Mauri P, Pierotti MA. Transforming activity of the chimeric sequence formed by the fusion of collagen gene COL1A1 and the platelet derived growth factor b-chain gene in dermatofibrosarcoma protuberans. Oncogene. 1998 Sep 10;17(10):1313-9. doi: 10.1038/sj.onc.1202051.
- Lim J, Grafe I, Alexander S, Lee B. Genetic causes and mechanisms of Osteogenesis Imperfecta. Bone. 2017 Sep;102:40-49. doi: 10.1016/j.bone.2017.02.004. Epub 2017 Feb 15.
- Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori M, Cohen H, Colombi M, Demirdas S, De Backer J, De Paepe A, Fournel-Gigleux S, Frank M, Ghali N, Giunta C, Grahame R, Hakim A, Jeunemaitre X, Johnson D, Juul-Kristensen B, Kapferer-Seebacher I, Kazkaz H, Kosho T, Lavallee ME, Levy H, Mendoza-Londono R, Pepin M, Pope FM, Reinstein E, Robert L, Rohrbach M, Sanders L, Sobey GJ, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Wheeldon N, Zschocke J, Tinkle B. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):8-26. doi: 10.1002/ajmg.c.31552.
- Malfait F, Symoens S, Goemans N, Gyftodimou Y, Holmberg E, Lopez-Gonzalez V, Mortier G, Nampoothiri S, Petersen MB, De Paepe A. Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome. Orphanet J Rare Dis. 2013 May 21;8:78. doi: 10.1186/1750-1172-8-78.
- Mann V, Ralston SH. Meta-analysis of COL1A1 Sp1 polymorphism in relation to bone mineral density and osteoporotic fracture. Bone. 2003 Jun;32(6):711-7. doi: 10.1016/s8756-3282(03)00087-5.
- Marini JC, Forlino A, Bachinger HP, Bishop NJ, Byers PH, Paepe A, Fassier F, Fratzl-Zelman N, Kozloff KM, Krakow D, Montpetit K, Semler O. Osteogenesis imperfecta. Nat Rev Dis Primers. 2017 Aug 18;3:17052. doi: 10.1038/nrdp.2017.52.
- Ralston SH. Genetic control of susceptibility to osteoporosis. J Clin Endocrinol Metab. 2002 Jun;87(6):2460-6. doi: 10.1210/jcem.87.6.8621.
- Shimizu A, O'Brien KP, Sjoblom T, Pietras K, Buchdunger E, Collins VP, Heldin CH, Dumanski JP, Ostman A. The dermatofibrosarcoma protuberans-associated collagen type Ialpha1/platelet-derived growth factor (PDGF) B-chain fusion gene generates a transforming protein that is processed to functional PDGF-BB. Cancer Res. 1999 Aug 1;59(15):3719-23.
- Simon MP, Pedeutour F, Sirvent N, Grosgeorge J, Minoletti F, Coindre JM, Terrier-Lacombe MJ, Mandahl N, Craver RD, Blin N, Sozzi G, Turc-Carel C, O'Brien KP, Kedra D, Fransson I, Guilbaud C, Dumanski JP. Deregulation of the platelet-derived growth factor B-chain gene via fusion with collagen gene COL1A1 in dermatofibrosarcoma protuberans and giant-cell fibroblastoma. Nat Genet. 1997 Jan;15(1):95-8. doi: 10.1038/ng0197-95.
- Sirvent N, Maire G, Pedeutour F. Genetics of dermatofibrosarcoma protuberans family of tumors: from ring chromosomes to tyrosine kinase inhibitor treatment. Genes Chromosomes Cancer. 2003 May;37(1):1-19. doi: 10.1002/gcc.10202.
- Suphapeetiporn K, Tongkobpetch S, Mahayosnond A, Shotelersuk V. Expanding the phenotypic spectrum of Caffey disease. Clin Genet. 2007 Mar;71(3):280-4. doi: 10.1111/j.1399-0004.2007.00768.x.
- Van Dijk FS, Sillence DO. Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. Am J Med Genet A. 2014 Jun;164A(6):1470-81. doi: 10.1002/ajmg.a.36545. Epub 2014 Apr 8.
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المقال متاح أيضًا باللغة الإنجليزية, الألمانية, إسبانية, الفرنسية, إيطالي, البرتغالية, الهندية, العبرية, العربية ,، و السويدية.
21 Mar 2023 | أحدث إصدار
1 Nov 2019 | نُشر في الأصل
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