FAM20A

Family with sequence similarity 20, member A
Identifiers
Symbols FAM20A ; AI1G; AIGFS; FP2747
External IDs OMIM: 611062 MGI: 2388266 HomoloGene: 9719 GeneCards: FAM20A Gene
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

  1. "Entrez Gene: family with sequence similarity 20".
  2. 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.
  3. 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.
  4. 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.
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