FAM20A
| FAM20A | ||||||
|---|---|---|---|---|---|---|
| Identifiers | ||||||
| Aliases | FAM20A, AI1G, AIGFS, FP2747, family with sequence similarity 20 member A | |||||
| External IDs | MGI: 2388266 HomoloGene: 9719 GeneCards: FAM20A | |||||
| Orthologs | ||||||
| Species | Human | Mouse | ||||
| Entrez | ||||||
| Ensembl | ||||||
| UniProt | ||||||
| RefSeq (mRNA) | ||||||
| RefSeq (protein) | ||||||
| Location (UCSC) | Chr 17: 68.54 – 68.6 Mb | Chr 11: 109.67 – 109.72 Mb | ||||
| PubMed search | [1] | [2] | ||||
| Wikidata | ||||||
| View/Edit Human | View/Edit Mouse |
FAM20A is a protein that in humans is encoded by the FAM20A gene.[3]
Function
FAM20A belongs to an evolutionarily conserved family of secreted proteins expressed in many tissues. This locus encodes a protein that may function in hematopoiesis.[4] This locus encodes a protein that is likely secreted and may function in hematopoiesis. 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.[5]
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.[6]
References
- ↑ "Human PubMed Reference:".
- ↑ "Mouse PubMed Reference:".
- ↑ "Entrez Gene: family with sequence similarity 20".
- ↑ 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. - ↑ 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.
- ↑ 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.