FAM20A

FAM20A is a is_associated_with::protein that in humans is encoded by the FAM20A is_associated_with::gene.

Function
FAM20A belongs to an is_associated_with::evolutionarily conserved family of is_associated_with::secreted proteins expressed in many tissues. This locus encodes a protein that may function in is_associated_with::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 is_associated_with::amelogenesis imperfecta, an inherited enamel defect, and is_associated_with::gingival hyperplasia syndrome.

Human mutations in FAM20A were also reported to cause is_associated_with::Enamel-Renal Syndrome, an autosomal recessive disorder characterized by severe enamel hypoplasia, failed tooth eruption, intrapulpal calcifications, enlarged gingiva, and nephrocalcinosis.