Overview:
FAM20C is Golgi casein kinase that phosphorylates secretory proteins within a Serx-Glu/pSer motif. It phosphorylates caseins and several other secretory proteins including AMTN, ENAM, SPP1 and the small integrin-binding ligand N-linked glycoproteins that are involved in biomineralization (1). FAM20C null mice develop hypophosphatemic rickets along with significant downregulation of osteoblast differentiation markers (2). Mutations in FAM20C gene are associated with Raine syndrome, an osteosclerotic bone dysplasia in humans (3). Additionally, FAM20C is implicated in other physiological processes, such as wound healing, regeneration, and cell migration (4).
Gene Aliases:
GEF-CK, DMP4, G-CK, RNS
Genbank Number:
BC040074
References:
1. Cui, J. et al. (2015) A secretory kinase complex regulates extracellular protein phosphorylation.eLife. 4:e0612.2. Wang X, et al: (2012) Inactivation of a novel FGF23 regulator, FAM20C, leads to hypophosphatemic rickets in mice. PLoS Genet. 8(5):e1002708.3. Tagliabracci VS, et al: (2012) Secreted kinase phosphorylates extracellular proteins that regulate biomineralization. Science. 336(6085):1150–11534. Tagliabracci VS, et al: (2015) A single kinase generates the majority of the secreted phosphoproteome. Cell 161: 1619–1632.