Disease-gene associations mined from literature

Literature associating FAM20C and exophthalmos

FAM20C [ENSP00000322323]

Extracellular serine/threonine protein kinase FAM20C; 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. Constitutes the main protein kinase for extracellular proteins, generating the majority of the extracellular phosphoproteome. Mainly phosphorylates proteins within the Ser- x-Glu/pSer motif, but also displays a broader substrate specificity. Phosphorylates casein as well as a number of proteins involved in biomineralization such as AMELX, AMTN, ENAM and SPP1. In addition to its role in biomineralization, also plays a role in lipid homeostasis, wound healing and cell migration and adhesion.

Synonyms:  FAM20C,  FAM20Cp,  hFAM20C,  Q8IXL6,  DMP4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM