FAM20A gene

FAM20A, golgi associated secretory pathway pseudokinase

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

From NCBI Gene:

  • Enamel-renal syndrome

From UniProt:

Amelogenesis imperfecta 1G (AI1G): A disorder characterized by dental anomalies, gingival overgrowth, and nephrocalcinosis. Dental anomalies include hypoplastic amelogenesis imperfecta, intrapulpal calcifications, delay of tooth eruption, hypodontia/oligodontia, pericoronal radiolucencies and unerupted teeth. [MIM:204690]

Cytogenetic Location: 17q24.2, which is the long (q) arm of chromosome 17 at position 24.2

Molecular Location: base pairs 68,534,561 to 68,600,954 on chromosome 17 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 17q24.2, which is the long (q) arm of chromosome 17 at position 24.2
  • AI1G
  • AIGFS
  • FP2747