serine active site containing 1
עודכן לאחרונה 18 Aug 2020
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ה SERAC1 gene provides instructions for making a protein whose function is not completely understood. Studies suggest that the SERAC1 protein is involved in altering (remodeling) certain fats called phospholipids, particularly a phospholipid called phosphatidylglycerol.
Normal function
ה SERAC1 gene provides instructions for making a protein whose function is not completely understood. Studies suggest that the SERAC1 protein is involved in altering (remodeling) certain fats called phospholipids, particularly a phospholipid called phosphatidylglycerol.
Another phospholipid called cardiolipin is made from phosphatidylglycerol. Cardiolipin is a component of the membrane that surrounds cellular structures called mitochondria, which convert the energy from food into a form that cells can use, and is important for the proper functioning of these structures.
Researchers believe that the SERAC1 protein is also involved in the movement of a waxy, fat-like substance called cholesterol within cells. Cholesterol is a structural component of cell membranes and plays a role in the production of certain hormones and digestive acids. It has important functions both before and after birth.
Conditions referring to this gene or chromosome
Other names
FLJ14917
protein SERAC1
serine active site-containing protein 1
Related patient information and medicines
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טחורים
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פטרת הפה בתינוקות
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בדיקות דם
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פוליו וחיסון לפוליו
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האם אני יכול לקחת שיטאקה וזנב הודו יחד?
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Patient information leaflet
תרופות לשיעול
תרופות לשיעול are commonly bought to treat various types of coughs that occur when you have an upper respiratory tract infection (URTI). Cough medicines that you can buy are often divided into those for a dry or tickly cough, and those for a chesty cough. It is thought that cough medicines do not really work. However, some people feel that they.
קריאה נוספת והפניות
- serine active site containing 1; MedlinePlus, National Library of Medicine.
- Sarig O, Goldsher D, Nousbeck J, Fuchs-Telem D, Cohen-Katsenelson K, Iancu TC, Manov I, Saada A, Sprecher E, Mandel H. Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1. Am J Med Genet A. 2013 Sep;161A(9):2204-15. doi: 10.1002/ajmg.a.36059. Epub 2013 Aug 5.
- Tort F, Garcia-Silva MT, Ferrer-Cortes X, Navarro-Sastre A, Garcia-Villoria J, Coll MJ, Vidal E, Jimenez-Almazan J, Dopazo J, Briones P, Elpeleg O, Ribes A. Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria. Mol Genet Metab. 2013 Sep-Oct;110(1-2):73-7. doi: 10.1016/j.ymgme.2013.04.021. Epub 2013 May 3.
- Wortmann SB, Vaz FM, Gardeitchik T, Vissers LE, Renkema GH, Schuurs-Hoeijmakers JH, Kulik W, Lammens M, Christin C, Kluijtmans LA, Rodenburg RJ, Nijtmans LG, Grunewald A, Klein C, Gerhold JM, Kozicz T, van Hasselt PM, Harakalova M, Kloosterman W, Baric I, Pronicka E, Ucar SK, Naess K, Singhal KK, Krumina Z, Gilissen C, van Bokhoven H, Veltman JA, Smeitink JA, Lefeber DJ, Spelbrink JN, Wevers RA, Morava E, de Brouwer AP. Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. Nat Genet. 2012 Jun 10;44(7):797-802. doi: 10.1038/ng.2325.
הצטרפו לשיחה
שתפו את מחשבותיכם או חוויותיכם עם אחרים ב קהילות המטופלים שלנו.
שאלו, שתפו, התחברו.
עיין בדיונים, שאל שאלות ושתף חוויות במאות נושאים בריאותיים.
הירשמו לניוזלטר של פיישנט
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