Species Human Entrez 54757 | Human Mouse Ensembl ENSG00000108950 | |
Aliases FAM20A, AI1G, AIGFS, FP2747, family with sequence similarity 20 member A External IDs MGI: 2388266 HomoloGene: 9719 GeneCards: FAM20A | ||
FAM20A is a protein that in humans is encoded by the FAM20A gene.
Contents
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. 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.
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.