protein O-fucosyltransferase 1
עודכן לאחרונה 18 Aug 2020
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ה POFUT1 gene provides instructions for making a protein called protein O-fucosyltransferase 1. This protein is located in a cell structure called the endoplasmic reticulum, which helps with protein processing and transport. Protein O-fucosyltransferase 1 adds sugar molecules, specifically a sugar called fucose, to other proteins called Notch receptors. Notch receptors are a family of proteins that are involved in a signaling pathway that guides normal development of many tissues throughout the body, both before birth and throughout life. Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. Attachment of a ligand into a Notch receptor triggers signaling in the pathway.
Normal function
ה POFUT1 gene provides instructions for making a protein called protein O-fucosyltransferase 1. This protein is located in a cell structure called the endoplasmic reticulum, which helps with protein processing and transport. Protein O-fucosyltransferase 1 adds sugar molecules, specifically a sugar called fucose, to other proteins called Notch receptors. Notch receptors are a family of proteins that are involved in a signaling pathway that guides normal development of many tissues throughout the body, both before birth and throughout life. Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. Attachment of a ligand into a Notch receptor triggers signaling in the pathway.
The addition of fucose molecules alters the shape of the Notch receptor. The receptor is then able to attach (bind) to its ligand and trigger signaling. Through its integral role in Notch receptor function, protein O-fucosyltransferase 1 allows the Notch pathway to proceed. The Notch pathway regulates a variety of processes including the specialization of cells into certain cell types that perform particular functions in the body (cell fate determination). It also plays a role in cell growth and division (proliferation), maturation (differentiation), and self-destruction (apoptosis).
In skin cells, Notch signaling likely plays a role in the maintenance of precursor cells that mature into pigment-producing skin cells called melanocytes and may regulate interactions between melanocytes and other skin cells called keratinocytes.
Conditions referring to this gene or chromosome
Other names
FUT12
KIAA0180
O-Fuc-T
o-fucosyltransferase protein
O-FucT-1
O-FUT
OFUCT1
peptide-O-fucosyltransferase 1
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 a 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 malabsorption 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 advanced CKD may be advised to follow a special diet, usually with the support of a specialist dietician. It's important for.
Patient information leaflet
שחמת
איזה does the liver do. The liver 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.
קריאה נוספת והפניות
- protein O-fucosyltransferase 1; MedlinePlus, National Library of Medicine.
- Buket Basmanav F, Fritz G, Lestringant GG, Pachat D, Hoffjan S, Fischer J, Wehner M, Wolf S, Thiele H, Altmuller J, Pulimood SA, Rutten A, Kruse R, Hanneken S, Frank J, Danda S, Bygum A, Betz RC. Pathogenicity of POFUT1 in Dowling-Degos disease: additional mutations and clinical overlap with reticulate acropigmentation of kitamura. J Invest Dermatol. 2015 Feb;135(2):615-618. doi: 10.1038/jid.2014.406. Epub 2014 Sep 17. No abstract available.
- Li M, Cheng R, Liang J, Yan H, Zhang H, Yang L, Li C, Jiao Q, Lu Z, He J, Ji J, Shen Z, Li C, Hao F, Yu H, Yao Z. Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease. Am J Hum Genet. 2013 Jun 6;92(6):895-903. doi: 10.1016/j.ajhg.2013.04.022. Epub 2013 May 16.
- McMillan BJ, Zimmerman B, Egan ED, Lofgren M, Xu X, Hesser A, Blacklow SC. Structure of human POFUT1, its requirement in ligand-independent oncogenic Notch signaling, and functional effects of Dowling-Degos mutations. Glycobiology. 2017 Aug 1;27(8):777-786. doi: 10.1093/glycob/cwx020.
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