Biology:FAM20A
 Generic protein structure example |
FAM20A is a protein that in humans is encoded by the FAM20A gene.[1]
Function
FAM20A belongs to an evolutionarily conserved family of secreted proteins expressed in many tissues. This locus encodes a protein that is likely secreted and may function in hematopoiesis.[2] A mutation at this locus has been associated with amelogenesis imperfecta and gingival hyperplasia syndrome. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Aug 2011]
Clinical significance
A mutation in FAM20A was reported to be associated with amelogenesis imperfecta, an inherited enamel defect, and gingival hyperplasia syndrome.[3]
Human mutations in FAM20A were also reported to cause Enamel-Renal Syndrome, an autosomal recessive disorder characterized by severe enamel hypoplasia, failed tooth eruption, intrapulpal calcifications, enlarged gingiva, and nephrocalcinosis.[4]
References
- ↑ "Entrez Gene: family with sequence similarity 20". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=54757.
- ↑ "FAM20: an evolutionarily conserved family of secreted proteins expressed in hematopoietic cells". BMC Genomics 6 (1): 11. 2005. doi:10.1186/1471-2164-6-11. PMID 15676076.
- ↑ "Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome". Am. J. Hum. Genet. 88 (5): 616–20. May 2011. doi:10.1016/j.ajhg.2011.04.005. PMID 21549343.
- ↑ "FAM20A mutations can cause enamel-renal syndrome (ERS)". PLOS Genet. 9 (2): e1003302. Feb 2013. doi:10.1371/journal.pgen.1003302. PMID 23468644.
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