FAM20A
Family with sequence similarity 20, member A | |||||||||||||
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Identifiers | |||||||||||||
Symbols | FAM20A ; AI1G; AIGFS; FP2747 | ||||||||||||
External IDs | OMIM: 611062 MGI: 2388266 HomoloGene: 9719 GeneCards: FAM20A Gene | ||||||||||||
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Orthologs | |||||||||||||
Species | Human | Mouse | |||||||||||
Entrez | 54757 | 208659 | |||||||||||
Ensembl | ENSG00000108950 | ENSMUSG00000020614 | |||||||||||
UniProt | Q96MK3 | Q8CID3 | |||||||||||
RefSeq (mRNA) | NM_001243746 | NM_153782 | |||||||||||
RefSeq (protein) | NP_001230675 | NP_722477 | |||||||||||
Location (UCSC) |
Chr 17: 68.54 – 68.6 Mb |
Chr 11: 109.67 – 109.72 Mb | |||||||||||
PubMed search | |||||||||||||
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 may function in hematopoiesis.[2] 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.[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".
- ↑ 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 (9): e1003302. doi:10.1371/journal.pgen.1003302. PMID 23468644.