collagen type XI alpha 1 chain
آخر تحديث 19 ديسمبر 2024
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ال COL11A1 gene provides instructions for making a component of type XI collagen called the pro-alpha1(XI) chain. Collagens are molecules that provide structure and strength to the connective tissues that support the body's muscles, joints, organs, and skin. Type XI collagen is normally found in cartilage, a tough but flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. Type XI collagen is also part of the inner ear; the vitreous, which is the clear gel that fills the eyeball; and the nucleus pulposus, which is the center portion of the discs between the bones of the spine (vertebrae).
Normal function
ال COL11A1 gene provides instructions for making a component of type XI collagen called the pro-alpha1(XI) chain. Collagens are molecules that provide structure and strength to the connective tissues that support the body's muscles, joints, organs, and skin. Type XI collagen is normally found in cartilage, a tough but flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. Type XI collagen is also part of the inner ear; the vitreous, which is the clear gel that fills the eyeball; and the nucleus pulposus, which is the center portion of the discs between the bones of the spine (vertebrae).
Collagens begin as rope-like procollagen molecules that are each made up of three chains. The pro-alpha1(XI) chain combines with two other collagen chains, pro-alpha2(XI) and pro-alpha1(II), to form a triple-stranded procollagen molecule. Then the ropelike procollagen is processed by enzymes to create mature collagen. Mature collagen molecules arrange themselves into long, thin fibrils that form stable interactions (cross-links) with one another in the spaces between cells (the extracellular matrix). The cross-links result in the formation of very strong type XI collagen fibers.
Type XI collagen also helps maintain the spacing and width (diameter) of another type of collagen molecule, type II collagen. Type II collagen is an important component of the vitreous and cartilage. The arrangement and size of type II collagen fibrils is essential for the normal structure of these tissues.
Conditions referring to this gene or chromosome
Other names
COLL6
collagen type XI alpha 1
collagen XI, alpha-1 polypeptide
collagen, type XI, alpha 1
STL2
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. The 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؟
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 differ... Why this happens Biotin is a B-vitamin (B7) that helps the body convert nutrients into energy and supports the production of keratin. Collagen is a structural protein.
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
اضطرابات تخزين الجليكوجين
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. Symptoms include weakness,.
Patient information leaflet
هل يمكنني تناول الكاربوسيستين والكولاجين معًا؟
لا توجد no known interactions between carbocisteine and collagen supplements. Why this happens Carbocisteine works by br... 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.
قراءة إضافية ومراجع
- collagen type XI alpha 1 chain; MedlinePlus, National Library of Medicine.
- Akawi NA, Al-Gazali L, Ali BR. Clinical and molecular analysis of UAE fibrochondrogenesis patients expands the phenotype and reveals two COL11A1 homozygous null mutations. Clin Genet. 2012 Aug;82(2):147-56. doi: 10.1111/j.1399-0004.2011.01734.x. Epub 2011 Jul 18.
- Akawi NA, Ali BR, Al-Gazali L. A response to Dr. Alzahrani's letter to the editor regarding the mechanism underlying fibrochondrogenesis. Gene. 2013 Oct 10;528(2):367-8. doi: 10.1016/j.gene.2013.07.038. Epub 2013 Jul 29. No abstract available.
- Alzahrani F, Alshammari MJ, Alkuraya FS. Molecular pathogenesis of fibrochondrogenesis: is it really simple COL11A1 deficiency? Gene. 2012 Dec 15;511(2):480-1. doi: 10.1016/j.gene.2012.09.069. Epub 2012 Sep 28. No abstract available.
- Annunen S, Korkko J, Czarny M, Warman ML, Brunner HG, Kaariainen H, Mulliken JB, Tranebjaerg L, Brooks DG, Cox GF, Cruysberg JR, Curtis MA, Davenport SL, Friedrich CA, Kaitila I, Krawczynski MR, Latos-Bielenska A, Mukai S, Olsen BR, Shinno N, Somer M, Vikkula M, Zlotogora J, Prockop DJ, Ala-Kokko L. Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. Am J Hum Genet. 1999 Oct;65(4):974-83. doi: 10.1086/302585.
- Majava M, Hoornaert KP, Bartholdi D, Bouma MC, Bouman K, Carrera M, Devriendt K, Hurst J, Kitsos G, Niedrist D, Petersen MB, Shears D, Stolte-Dijkstra I, Van Hagen JM, Ala-Kokko L, Mannikko M, Mortier GR. A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies. Am J Med Genet A. 2007 Feb 1;143A(3):258-64. doi: 10.1002/ajmg.a.31586.
- Rodriguez-Fontenla C, Calaza M, Evangelou E, Valdes AM, Arden N, Blanco FJ, Carr A, Chapman K, Deloukas P, Doherty M, Esko T, Garces Aleta CM, Gomez-Reino Carnota JJ, Helgadottir H, Hofman A, Jonsdottir I, Kerkhof HJ, Kloppenburg M, McCaskie A, Ntzani EE, Ollier WE, Oreiro N, Panoutsopoulou K, Ralston SH, Ramos YF, Riancho JA, Rivadeneira F, Slagboom PE, Styrkarsdottir U, Thorsteinsdottir U, Thorleifsson G, Tsezou A, Uitterlinden AG, Wallis GA, Wilkinson JM, Zhai G, Zhu Y; arcOGEN Consortium; Felson DT, Ioannidis JP, Loughlin J, Metspalu A, Meulenbelt I, Stefansson K, van Meurs JB, Zeggini E, Spector TD, Gonzalez A. Assessment of osteoarthritis candidate genes in a meta-analysis of nine genome-wide association studies. Arthritis Rheumatol. 2014 Apr;66(4):940-9. doi: 10.1002/art.38300.
- Tompson SW, Bacino CA, Safina NP, Bober MB, Proud VK, Funari T, Wangler MF, Nevarez L, Ala-Kokko L, Wilcox WR, Eyre DR, Krakow D, Cohn DH. Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene. Am J Hum Genet. 2010 Nov 12;87(5):708-12. doi: 10.1016/j.ajhg.2010.10.009. Epub 2010 Oct 28.
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المقال متاح أيضًا باللغة الإنجليزية, الألمانية, إسبانية, الفرنسية, إيطالي, البرتغالية, الهندية, العبرية, العربية ,، و السويدية.
19 ديسمبر 2024 | أحدث إصدار
1 Apr 2016 | نُشر في الأصل
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