Aliases for FAM20C Gene
External Ids for FAM20C Gene
Previous GeneCards Identifiers for FAM20C Gene
This gene encodes a member of the family of secreted protein kinases. The encoded protein binds calcium and phosphorylates proteins involved in bone mineralization. Mutations in this gene are associated with the autosomal recessive disorder Raine syndrome. [provided by RefSeq, Apr 2014]
GeneCards Summary for FAM20C Gene
FAM20C (Family With Sequence Similarity 20 Member C) is a Protein Coding gene. Diseases associated with FAM20C include raine syndrome and cole-carpenter syndrome 2. GO annotations related to this gene include calcium ion binding and protein serine/threonine kinase activity. An important paralog of this gene is FAM20B.
UniProtKB/Swiss-Prot for FAM20C Gene
Golgi serine/threonine protein kinase that phosphorylates secretory pathway proteins within Ser-x-Glu/pSer motifs and plays a key role in biomineralization of bones and teeth (PubMed:22582013, PubMed:23754375, PubMed:25789606). Constitutes the main protein kinase for extracellular proteins, generating the majority of the extracellular phosphoproteome (PubMed:26091039). Mainly phosphorylates proteins within the Ser-x-Glu/pSer motif, but also displays a broader substrate specificity (PubMed:26091039). Phosphorylates casein as well as a number of proteins involved in biomineralization such as AMELX, AMTN, ENAM and SPP1 (PubMed:22582013, PubMed:25789606). In addition to its role in biomineralization, also plays a role in lipid homeostasis, wound healing and cell migration and adhesion (PubMed:26091039).