protein O-mannosyltransferase 1
עודכן לאחרונה 19 Apr 2023
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ה POMT1 gene provides instructions for making one piece of the protein O-mannosyltransferase (POMT) enzyme complex. The other piece is produced from the POMT2 gene. This enzyme complex is present in many different tissues in the body but is particularly abundant in the muscles used for movement (skeletal muscles), fetal brain, and testes.
Normal function
ה POMT1 gene provides instructions for making one piece of the protein O-mannosyltransferase (POMT) enzyme complex. The other piece is produced from the POMT2 gene. This enzyme complex is present in many different tissues in the body but is particularly abundant in the muscles used for movement (skeletal muscles), fetal brain, and testes.
The POMT complex helps modify a protein called alpha (α)-dystroglycan. Specifically, this complex adds a sugar molecule called mannose to α-dystroglycan through a process called glycosylation. Glycosylation is critical for the normal function of α-dystroglycan.
The α-dystroglycan protein helps anchor the structural framework inside each cell (cytoskeleton) to the lattice of proteins and other molecules outside the cell (extracellular matrix). In skeletal muscles, glycosylated α-dystroglycan helps stabilize and protect muscle fibers. In the brain, it helps direct the movement (migration) of nerve cells (neurons) during early development.
Conditions referring to this gene or chromosome
Other names
dolichyl-phosphate-mannose--protein mannosyltransferase 1
dolichyl-phosphate-mannose-protein mannosyltransferase
LGMD2K
MDDGA1
MDDGB1
MDDGC1
POMT1_HUMAN
protein O-mannosyl-transferase 1
protein-O-mannosyltransferase 1
RT
Related patient information and medicines
Patient information leaflet
בדיקות תפקודי כבד
The usual liver function tests typically include the following: Bilirubin. Albumin. Total protein. Transferases (AST or SGOT and ALT or SGPT). Serum ferritin and transferrin saturation (measures of iron storage and management by your body). Alpha-fetoprotein (maternal levels help look at the health of the baby during pregnancy, and levels are also.
Patient information leaflet
בדיקות סקר להריון
אלה הם screening and diagnostic checks that are done to find out if your baby has a health problem before they are born. A pregnancy screening test (also known as an antenatal check), aims to detect כ disease or condition in the early stages before it causes significant problems, and where treatment can be offered. The potential benefits of any.
Patient information leaflet
תת-ספיגה במערכת העיכול
Gastrointestinal malabsorption syndrome means a failure to fully absorb digested foods from the gut (bowel) into your body. There are many different causes. Prolonged intestinal תת־ספיגה may cause problems because of a lack of carbohydrates, proteins, fats, minerals and vitamins that are essential to keep you healthy. The treatment will.
Patient information leaflet
תזונה בריאה
תזונה בריאה may help to למנוע certain long-term (chronic) diseases כגון heart disease, stroke and diabetes. It may also help to reduce your risk of developing some cancers and help you to maintain a healthy weight. Food groups ... Milk and dairy foods. Protein foods. These include meat, fish, eggs and other non-dairy sources of protein.
Patient information leaflet
תזונה במחלת כליות כרונית
Chronic kidney disease (CKD) is a common long-term condition where the כליות aren't working as well as they should be. There are some dietary choices that are recommended for people with early CKD. People with more a... Protein The kidneys remove waste products of protein from the body as a chemical called urea. In the past, diet advice for.
Patient information leaflet
שחמת
ה כבד is in the upper right part of the tummy (abdomen). It has many functions which include: Storing fuel for the body (glycogen) which is made from sugars. When required, glycogen is broken down into glucose which is released into the bloodstream. Helping to process fats and proteins from digested food. Making proteins that are essential for.
קריאה נוספת והפניות
- protein O-mannosyltransferase 1; MedlinePlus, National Library of Medicine.
- Akasaka-Manya K, Manya H, Endo T. Mutations of the POMT1 gene found in patients with Walker-Warburg syndrome lead to a defect of protein O-mannosylation. Biochem Biophys Res Commun. 2004 Dec 3;325(1):75-9. doi: 10.1016/j.bbrc.2004.10.001.
- Akasaka-Manya K, Manya H, Nakajima A, Kawakita M, Endo T. Physical and functional association of human protein O-mannosyltransferases 1 and 2. J Biol Chem. 2006 Jul 14;281(28):19339-45. doi: 10.1074/jbc.M601091200. Epub 2006 May 12.
- Balci B, Uyanik G, Dincer P, Gross C, Willer T, Talim B, Haliloglu G, Kale G, Hehr U, Winkler J, Topaloglu H. An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene. Neuromuscul Disord. 2005 Apr;15(4):271-5. doi: 10.1016/j.nmd.2005.01.013.
- Bello L, Melacini P, Pezzani R, D'Amico A, Piva L, Leonardi E, Torella A, Soraru G, Palmieri A, Smaniotto G, Gavassini BF, Vianello A, Nigro V, Bertini E, Angelini C, Tosatto SC, Pegoraro E. Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy. Eur J Hum Genet. 2012 Dec;20(12):1234-9. doi: 10.1038/ejhg.2012.71. Epub 2012 May 2.
- Kim DS, Hayashi YK, Matsumoto H, Ogawa M, Noguchi S, Murakami N, Sakuta R, Mochizuki M, Michele DE, Campbell KP, Nonaka I, Nishino I. POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG. Neurology. 2004 Mar 23;62(6):1009-11. doi: 10.1212/01.wnl.0000115386.28769.65.
- Lommel M, Cirak S, Willer T, Hermann R, Uyanik G, van Bokhoven H, Korner C, Voit T, Baric I, Hehr U, Strahl S. Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies. Neurology. 2010 Jan 12;74(2):157-64. doi: 10.1212/WNL.0b013e3181c919d6.
- Manya H, Chiba A, Yoshida A, Wang X, Chiba Y, Jigami Y, Margolis RU, Endo T. Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity. Proc Natl Acad Sci U S A. 2004 Jan 13;101(2):500-5. doi: 10.1073/pnas.0307228101. Epub 2003 Dec 29.
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