FAM20A

<h2 id="function">Function</h2>
<p>FAM20A belongs to an <a href="/facts/Evolutionarily_conserved/YAxy2Xa2">evolutionarily conserved</a> family of <a href="/facts/Secreted_protein/FI9XYhHE">secreted proteins</a> expressed in many tissues. This <a href="/facts/Locus_(genetics)/JcIT8wLm">locus</a> encodes a protein that is likely secreted and  may function in <a href="/facts/Hematopoiesis/VRDwMymd">hematopoiesis</a>.<a class="footnote-ref" id="fnref:2" href="#fn:2"><sup>2</sup></a>
<a href="/facts/Alternatively_spliced/nNRwPVNK">Alternatively spliced</a> transcript variants have been identified. [provided by RefSeq, Aug 2011]
</p>
<h2 id="clinical-significance">Clinical significance</h2>
<p>A <a href="/facts/Mutation/Ee4NnWbY">mutation</a> in <i>FAM20A</i> was reported to be associated with <a href="/facts/Amelogenesis_imperfecta/gPBkraKt">amelogenesis imperfecta</a>, an inherited <a href="/facts/Tooth_enamel/ffUMmssl">enamel</a> defect, and <a href="/facts/Gingival_hyperplasia/Q1FJkkbL">gingival hyperplasia</a> syndrome.<a class="footnote-ref" id="fnref:3" href="#fn:3"><sup>3</sup></a>
</p><p>Human mutations in <i>FAM20A</i> were also reported to cause <a href="/facts/Enamel-Renal_Syndrome/VDvFBXfk">Enamel-Renal Syndrome</a>, an <a href="/facts/Autosomal_recessive_disorder/DsvtPyQU">autosomal recessive disorder</a> characterized by severe <a href="/facts/Enamel_hypoplasia/2t79v2Uo">enamel hypoplasia</a>, <a href="/facts/Failure_of_eruption_of_teeth/945elseY">failed tooth eruption</a>, intrapulpal calcifications, enlarged <a href="/facts/Gingiva/4JhxlckG">gingiva</a>, and <a href="/facts/Nephrocalcinosis/NnpX3YL1">nephrocalcinosis</a>.<a class="footnote-ref" id="fnref:4" href="#fn:4"><sup>4</sup></a>
</p>

<h2 id="references">References</h2>

<ol>
<li id="fn:1"><p>"Entrez Gene: family with sequence similarity 20". <a href="https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=54757" target="_blank">https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=54757</a> <a href="#fnref:1" class="footnote-back-ref">↩</a></p></li>
<li id="fn:2"><p>Nalbant D, Youn H, Nalbant SI, Sharma S, Cobos E, Beale EG, Du Y, Williams SC (2005). "FAM20: an evolutionarily conserved family of secreted proteins expressed in hematopoietic cells". BMC Genomics. 6 (1): 11. doi:10.1186/1471-2164-6-11. PMC 548683. PMID 15676076. <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC548683" target="_blank">https://www.ncbi.nlm.nih.gov/pmc/articles/PMC548683</a> <a href="#fnref:2" class="footnote-back-ref">↩</a></p></li>
<li id="fn:3"><p>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 (May 2011). "Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome". Am. J. Hum. Genet. 88 (5): 616–20. doi:10.1016/j.ajhg.2011.04.005. PMC 3146735. PMID 21549343. <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3146735" target="_blank">https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3146735</a> <a href="#fnref:3" class="footnote-back-ref">↩</a></p></li>
<li id="fn:4"><p>Wang SK, Aref P, Hu Y, Milkovich RN, Simmer JP, El-Khateeb M, Daggag H, Baqain ZH, Hu JC (Feb 2013). "FAM20A mutations can cause enamel-renal syndrome (ERS)". PLOS Genet. 9 (2): e1003302. doi:10.1371/journal.pgen.1003302. PMC 3585120. PMID 23468644. <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3585120" target="_blank">https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3585120</a> <a href="#fnref:4" class="footnote-back-ref">↩</a></p></li>
</ol>

FAM20A open-in-new

FAM20A