scaffolding CK1 anchoring protein H
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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
Otros nombres
FAM83H
FLJ46072
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Lecturas adicionales y referencias
- 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.
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