collagen type VI alpha 1 chain
עודכן לאחרונה 19 Jul 2022
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ה COL6A1 gene provides instructions for making one component of type VI collagen, which is a flexible protein found in the space that surrounds cells. Specifically, the protein produced from the COL6A1 gene is the alpha(α)1(VI) chain of type VI collagen. This chain combines with chains produced from other genes to produce a complete type VI collagen molecule.
Normal function
ה COL6A1 gene provides instructions for making one component of type VI collagen, which is a flexible protein found in the space that surrounds cells. Specifically, the protein produced from the COL6A1 gene is the alpha(α)1(VI) chain of type VI collagen. This chain combines with chains produced from other genes to produce a complete type VI collagen molecule.
Collagens are found in the extracellular matrix, which is an intricate lattice that forms in the space between cells and provides structural support. Type VI collagen is located in the extracellular matrix surrounding cells that make up the muscles used for movement (skeletal muscle cells) and cells that make up connective tissue, which provides strength and flexibility to structures throughout the body, including skin and joints. The extracellular matrix is necessary for cell stability and growth. Research suggests that type VI collagen links basement membranes, which are thin, sheet-like structures that are part of the extracellular matrix, to nearby cells.
Conditions referring to this gene or chromosome
Other names
alpha 1 (VI) chain (61 AA)
CO6A1_HUMAN
collagen alpha-1(VI) chain
collagen type VI alpha 1
collagen VI, alpha-1 polypeptide
collagen, type VI, alpha 1
Related patient information and medicines
Patient information leaflet
דימום בזגוגית
דימום בזגוגית מטופל? bleeding into the jelly-like filling of the back part of your eye. ... What is the vitreous humour. The vitreous humour מטופל? a clear jelly-like substance that makes up about 80% of the volume of the globe of the eye. It supports the shape of the globe of the eye whilst letting light through. It is made up mainly of water but.
Patient information leaflet
האם אני יכול לקחת קנדסארטן וקולגן יחד?
There are no known sign... It is generally considered safe to take these together. Why this happens Candesartan מטופל? 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
חוסר בוויטמין C
Vitamins are a group ... Vitamin C is also called ascorbic acid. It cannot be made by the human body and so is an essential component of your diet. ויטמין C is needed to make a substance called collagen which is required for the health and repair of various tissues in the body, including: Skin. Bone. Cartilage. Ligaments and tendons. Blood vessel.
Patient information leaflet
האם אני יכול לקחת ביוטין וקולגן יחד?
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
הפרעות אגירת גליקוגן
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
האם אני יכול לקחת אדקל-די3 וקולגן יחד?
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.
קריאה נוספת והפניות
- collagen type VI alpha 1 chain; MedlinePlus, National Library of Medicine.
- Allamand V, Brinas L, Richard P, Stojkovic T, Quijano-Roy S, Bonne G. ColVI myopathies: where do we stand, where do we go? Skelet Muscle. 2011 Sep 23;1:30. doi: 10.1186/2044-5040-1-30.
- Baker NL, Morgelin M, Pace RA, Peat RA, Adams NE, Gardner RJ, Rowland LP, Miller G, De Jonghe P, Ceulemans B, Hannibal MC, Edwards M, Thompson EM, Jacobson R, Quinlivan RC, Aftimos S, Kornberg AJ, North KN, Bateman JF, Lamande SR. Molecular consequences of dominant Bethlem myopathy collagen VI mutations. Ann Neurol. 2007 Oct;62(4):390-405. doi: 10.1002/ana.21213.
- Baker NL, Morgelin M, Peat R, Goemans N, North KN, Bateman JF, Lamande SR. Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. Hum Mol Genet. 2005 Jan 15;14(2):279-93. doi: 10.1093/hmg/ddi025. Epub 2004 Nov 24.
- Bonnemann CG. The collagen VI-related myopathies: muscle meets its matrix. Nat Rev Neurol. 2011 Jun 21;7(7):379-90. doi: 10.1038/nrneurol.2011.81.
- Bushby KM, Collins J, Hicks D. Collagen type VI myopathies. Adv Exp Med Biol. 2014;802:185-99. doi: 10.1007/978-94-007-7893-1_12.
- Lucioli S, Giusti B, Mercuri E, Vanegas OC, Lucarini L, Pietroni V, Urtizberea A, Ben Yaou R, de Visser M, van der Kooi AJ, Bonnemann C, Iannaccone ST, Merlini L, Bushby K, Muntoni F, Bertini E, Chu ML, Pepe G. Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy. Neurology. 2005 Jun 14;64(11):1931-7. doi: 10.1212/01.WNL.0000163990.00057.66.
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