FAM20C

Chr 7AR

FAM20C golgi associated secretory pathway kinase

Also known as: DMP-4, DMP4, G-CK, GEF-CK, RNS

NCBI Gene: 56975 ENSG00000177706 UniProt: Q8IXL6 OMIM: 611061

FAM20C encodes a Golgi serine/threonine protein kinase that phosphorylates secretory pathway proteins and plays a key role in biomineralization of bones and teeth, as well as maintaining endoplasmic reticulum homeostasis. Mutations cause Raine syndrome, an autosomal recessive disorder affecting skeletal development and mineralization. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.489), consistent with its recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Raine syndromeMIM #259775

Clinical highlights

Gene-disease validity (ClinGen)

lethal osteosclerotic bone dysplasia · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.49

LOEUF

LOF

Mechanism· G2P