scaffolding CK1 anchoring protein H
עודכן לאחרונה 2 במרץ 2026
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The SACK1H gene provides instructions for making a protein that is found in cells throughout the body. The SACK1H protein interacts with other proteins in the fluid-filled space inside the cell (the cytoplasm) to help maintain the cell's structure (cytoskeleton).
Normal function
The SACK1H gene provides instructions for making a protein that is found in cells throughout the body. The SACK1H protein interacts with other proteins in the fluid-filled space inside the cell (the cytoplasm) to help maintain the cell's structure (cytoskeleton).
High levels of the SACK1H protein are found in specialized tooth cells called ameloblasts. Ameloblasts produce tooth enamel, which is the hard, white material that forms the protective outer layer of each tooth. The SACK1H protein plays a role in regulating many cellular processes during enamel formation.
Conditions referring to this gene or chromosome
Other names
FAM83H
FLJ46072
Related patient information and medicines
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אנזימים לבביים
אנזימים לבביים are substances released by the heart muscle when it is injured - for example, during a heart attack or a severe case of angina. A heart attack (myocardial infarction) can present in many ways, the most common of which is chest pain. Taking blood tests for heart enzymes can help medical professionals to diagnose a heart attack. What.
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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
ניוון שרירים
ניוון שרירים הוא inherited (genetic) disorder causing muscle weakness. There are different types of muscular dystrophy, which vary as to how severe they are, ranging from very mild to severe. The different types also vary as to what age they begin. If muscular dystrophy is suspected, tests can help to make an accurate diagnosis. Other.
Patient information leaflet
תזונה בריאה
איזה are the benefits of healthy eating. However, as part of a healthy diet, you should aim to keep both the amount of saturated fats and trans fats to a... A 2019 review by the SACN (The Scientific Advisory Committee on Nutrition) determined that reducing your intake of saturated fats lowers your risk of developing coronary heart disease,.
Patient information leaflet
מחלת כליות סוכרתית
מחלת כליות סוכרתית is one of the causes of chronic kidney disease , a long-term condition where the kidneys do not work as well as they should. In diabetic kidney disease, the filters of the kidneys, the glomeruli, become damaged. Because of this the kidneys 'leak' abnormal amounts of protein from the blood into the urine. The main protein.
Patient information leaflet
בדיקות גנטיות
בדיקות גנטיות is a type of medical test that identifies changes in chromosomes, genes או proteins. Genetic tests examine a person's DNA in a variety of ways to assess a person's genetic health. Genes are short sections of DNA and each chromosome contains hundreds to thousands of genes. Genes contain the information our bodies need to make.
קריאה נוספת והפניות
- scaffolding CK1 anchoring protein H; MedlinePlus, National Library of Medicine.
- Kim JW, Lee SK, Lee ZH, Park JC, Lee KE, Lee MH, Park JT, Seo BM, Hu JC, Simmer JP. FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta. Am J Hum Genet. 2008 Feb;82(2):489-94. doi: 10.1016/j.ajhg.2007.09.020.
- Kuga T, Sasaki M, Mikami T, Miake Y, Adachi J, Shimizu M, Saito Y, Koura M, Takeda Y, Matsuda J, Tomonaga T, Nakayama Y. FAM83H and casein kinase I regulate the organization of the keratin cytoskeleton and formation of desmosomes. Sci Rep. 2016 May 25;6:26557. doi: 10.1038/srep26557.
- Lee SK, Hu JC, Bartlett JD, Lee KE, Lin BP, Simmer JP, Kim JW. Mutational spectrum of FAM83H: the C-terminal portion is required for tooth enamel calcification. Hum Mutat. 2008 Aug;29(8):E95-9. doi: 10.1002/humu.20789.
- Lee SK, Lee KE, Jeong TS, Hwang YH, Kim S, Hu JC, Simmer JP, Kim JW. FAM83H mutations cause ADHCAI and alter intracellular protein localization. J Dent Res. 2011 Mar;90(3):377-81. doi: 10.1177/0022034510389177. Epub 2010 Nov 30.
- Tachie-Menson T, Gazquez-Gutierrez A, Fulcher LJ, Macartney TJ, Wood NT, Varghese J, Gourlay R, Soares RF, Sapkota GP. Characterisation of the biochemical and cellular roles of native and pathogenic amelogenesis imperfecta mutants of FAM83H. Cell Signal. 2020 Aug;72:109632. doi: 10.1016/j.cellsig.2020.109632. Epub 2020 Apr 11.
- Wang SK, Zhang H, Hu CY, Liu JF, Chadha S, Kim JW, Simmer JP, Hu JCC. FAM83H and Autosomal Dominant Hypocalcified Amelogenesis Imperfecta. J Dent Res. 2021 Mar;100(3):293-301. doi: 10.1177/0022034520962731. Epub 2020 Oct 9.
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
המנה השבועית שלך של עצות בריאות ברורות ואמינות - נכתבה כדי לעזור לך להרגיש מעודכן, בטוח ובשליטה.
על ידי הרשמה אתה מקבל את שלנו מדיניות הפרטיות שלנו. באפשרותך לבטל את המנוי בכל עת. לעולם לא נמכור את הנתונים שלך.