FAM20C gene

FAM20C, golgi associated secretory pathway kinase

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

From NCBI 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]

From UniProt:

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).

From NCBI Gene:

  • Raine syndrome

From UniProt:

Raine syndrome (RNS): Autosomal recessive osteosclerotic bone dysplasia with neonatal lethal outcome. Clinical features include generalized osteosclerosis, craniofacial dysplasia and microcephaly. [MIM:259775]

Cytogenetic Location: 7p22.3, which is the short (p) arm of chromosome 7 at position 22.3

Molecular Location: base pairs 192,939 to 260,774 on chromosome 7 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 7p22.3, which is the short (p) arm of chromosome 7 at position 22.3
  • DMP-4
  • DMP4
  • G-CK
  • GEF-CK
  • RNS