[5] 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] Alternatively spliced transcript variants have been identified.

[provided by RefSeq, Aug 2011] 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.