FAM20A

{{Short description|Protein-coding gene in the species Homo sapiens}} {{Infobox_gene}}

'''Pseudokinase FAM20A''' is a protein that in humans is encoded by the ''FAM20A'' gene.<ref name="entrez">{{cite web | title = Entrez Gene: family with sequence similarity 20| url = https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=54757}}</ref>

== 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.<ref name="pmid15676076">{{cite journal |vauthors=Nalbant D, Youn H, Nalbant SI, Sharma S, Cobos E, Beale EG, Du Y, Williams SC | title = FAM20: an evolutionarily conserved family of secreted proteins expressed in hematopoietic cells | journal = BMC Genomics | volume = 6 | issue = 1| page = 11 | year = 2005 | pmid = 15676076 | pmc = 548683 | doi = 10.1186/1471-2164-6-11 | doi-access = free }}</ref> 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.<ref name="pmid21549343">{{cite journal |vauthors=O'Sullivan J, Bitu CC, Daly SB, Urquhart JE, Barron MJ, Bhaskar SS, Martelli-Júnior H, dos Santos Neto PE, Mansilla MA, Murray JC, Coletta RD, Black GC, Dixon MJ | title = Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome | journal = Am. J. Hum. Genet. | volume = 88 | issue = 5 | pages = 616–20 |date=May 2011 | pmid = 21549343 | doi = 10.1016/j.ajhg.2011.04.005 | pmc=3146735}}</ref>

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.<ref name="pmid23468644">{{cite journal |vauthors=Wang SK, Aref P, Hu Y, Milkovich RN, Simmer JP, El-Khateeb M, Daggag H, Baqain ZH, Hu JC | title = FAM20A mutations can cause enamel-renal syndrome (ERS) | journal = PLOS Genet. | volume = 9 | issue = 2 | article-number = e1003302 |date=Feb 2013 | pmid = 23468644 | doi = 10.1371/journal.pgen.1003302 | pmc=3585120 | doi-access = free }}</ref>

==References== {{reflist}}

Category:Human proteins