FAM20A golgi associated secretory pathway pseudokinase
Última actualización 3 Dec 2025
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The FAM20A gene provides instructions for making a protein that is found in cells throughout the body. The FAM20A protein plays a role in the process of mineralization, in which minerals such as calcium and phosphorus are deposited in developing bones and teeth. Mineralization is critical for the formation of strong and rigid bones. It is also involved in building tooth enamel, which is the hard, white material that forms the protective outer layer of each tooth. Enamel strengthens teeth so they can withstand chewing and grinding. The FAM20A protein also plays a role in regulating the levels of calcium in the kidneys.
Normal function
The FAM20A gene provides instructions for making a protein that is found in cells throughout the body. The FAM20A protein plays a role in the process of mineralization, in which minerals such as calcium and phosphorus are deposited in developing bones and teeth. Mineralization is critical for the formation of strong and rigid bones. It is also involved in building tooth enamel, which is the hard, white material that forms the protective outer layer of each tooth. Enamel strengthens teeth so they can withstand chewing and grinding. The FAM20A protein also plays a role in regulating the levels of calcium in the kidneys.
Conditions referring to this gene or chromosome
Otros nombres
AI1G
AIGFS
FP2747
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Lecturas adicionales y referencias
- FAM20A golgi associated secretory pathway pseudokinase; MedlinePlus, National Library of Medicine.
- de la Dure-Molla M, Quentric M, Yamaguti PM, Acevedo AC, Mighell AJ, Vikkula M, Huckert M, Berdal A, Bloch-Zupan A. Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations. Orphanet J Rare Dis. 2014 Jun 14;9:84. doi: 10.1186/1750-1172-9-84.
- Ding JN, Yu M, Liu HC, Sun K, Wang J, Xu XL, Liu Y, Han D. FAM20A-Associated Amelogenesis Imperfecta: Gene Variants with Functional Verification and Histological Features. Chin J Dent Res. 2024 Mar 28;27(1):53-63. doi: 10.3290/j.cjdr.b5136761.
- Nitayavardhana I, Theerapanon T, Srichomthong C, Piwluang S, Wichadakul D, Porntaveetus T, Shotelersuk V. Four novel mutations of FAM20A in amelogenesis imperfecta type IG and review of literature for its genotype and phenotype spectra. Mol Genet Genomics. 2020 Jul;295(4):923-931. doi: 10.1007/s00438-020-01668-8. Epub 2020 Apr 3.
- Smith CEL, Poulter JA, Antanaviciute A, Kirkham J, Brookes SJ, Inglehearn CF, Mighell AJ. Amelogenesis Imperfecta; Genes, Proteins, and Pathways. Front Physiol. 2017 Jun 26;8:435. doi: 10.3389/fphys.2017.00435. eCollection 2017.
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