FAM20A

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FAM20A
Identifiers
AliasesFAM20A, AI1G, AIGFS, FP2747, family with sequence similarity 20 member A, golgi associated secretory pathway pseudokinase, FAM20A golgi associated secretory pathway pseudokinase
External IDsOMIM: 611062 MGI: 2388266 HomoloGene: 9719 GeneCards: FAM20A
Gene location (Human)
Chromosome 17 (human)
Chr.Chromosome 17 (human)[1]
Chromosome 17 (human)
Genomic location for FAM20A
Genomic location for FAM20A
Band17q24.2Start68,535,113 bp[1]
End68,601,367 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001243746
NM_017565

NM_153782

RefSeq (protein)

NP_001230675
NP_060035

NP_722477

Location (UCSC)Chr 17: 68.54 – 68.6 MbChr 11: 109.67 – 109.72 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

FAM20A is a protein that in humans is encoded by the FAM20A gene.[5]

Function[edit]

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.[6] 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[edit]

A mutation in FAM20A was reported to be associated with amelogenesis imperfecta, an inherited enamel defect, and gingival hyperplasia syndrome.[7]

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.[8]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000108950 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000020614 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: family with sequence similarity 20".
  6. ^ 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.
  7. ^ 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.
  8. ^ 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.