Family with Sequence Similarity 20, Member C

Alternative Names

  • FAM20C
  • Dentin Matrix Protein 4
  • DMP4

Associated Diseases

Raine Syndrome
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OMIM Number

611061

NCBI Gene ID

56975

Uniprot ID

Q8IXL6

Length

68,202 bases

No. of Exons

14

No. of isoforms

2

Protein Name

Extracellular Serine/Threonine Protein Kinase FAM20C

Molecular Mass

66234 Da

Amino Acid Count

584

Genomic Location

chr7:192,570-260,771

Gene Map Locus
7p22.3

Description

FAM20C is a member of the family with sequence similarity 20 of secreted proteins. This evolutionarily conserved protein family has three members: FAM20A, FAM20B, in addition to FAM20C. The latter gene is highly expressed in mineralized tissues, which corroborates data indicating that these proteins perform important functions in the development of the mineralized tissues. In fact loss-of-function mutations in FAM20C were associated with human lethal osteosclerotic bone dysplasia (Raine syndrome). This can be explained by the Golgi casein kinase function of FAM20C, which phosphorylates secretory pathway proteins with S-x-E motifs. These substrates are involved in biomineralization.

The FAM20C protein is 584 amino acids long and has two isoforms. The 350 amino acids at the C-terminus are highly conserved among different species and, therefore, have been named CCD (conserved C-terminal domain).

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_020223.4:c.957-3C>GEgyptchr7:248312PathogenicRaine SyndromeNG_033970.1:g.57948C>G; NM_020223.4:c.957-3C>G7960518511026
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