Aliases for FAM20A Gene
External Ids for FAM20A Gene
Previous GeneCards Identifiers for FAM20A Gene
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]
GeneCards Summary for FAM20A Gene
FAM20A (FAM20A, Golgi Associated Secretory Pathway Pseudokinase) is a Protein Coding gene. Diseases associated with FAM20A include Amelogenesis Imperfecta, Type Ig and Amelogenesis Imperfecta Hypoplastic Type, Ig. An important paralog of this gene is FAM20C.
UniProtKB/Swiss-Prot for FAM20A Gene
Pseudokinase that acts as an allosteric activator of the Golgi serine/threonine protein kinase FAM20C and is involved in biomineralization of teeth. Forms a complex with FAM20C and increases the ability of FAM20C to phosphorylate the proteins that form the matrix that guides the deposition of the enamel minerals.