FAM20C

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Family with sequence similarity 20, member C
Identifiers
Symbols FAM20C ; DMP-4; DMP4; GEF-CK; RNS
External IDs OMIM611061 MGI2136853 HomoloGene56879 GeneCards: FAM20C Gene
EC number 2.7.11.1
Orthologs
Species Human Mouse
Entrez 56975 80752
Ensembl ENSG00000177706 ENSMUSG00000025854
UniProt Q8IXL6 Q5MJS3
RefSeq (mRNA) NM_020223 NM_030565
RefSeq (protein) NP_064608 NP_085042
Location (UCSC) Chr 7:
0.19 – 0.3 Mb
Chr 5:
138.75 – 138.81 Mb
PubMed search [1] [2]

Family with sequence similarity 20, member C also known as FAM20C or DMP4 is a protein which in humans is encoded by the FAM20C gene.[1][2][3]

Function[edit]

Dmp4 causes differentiation of mesenchymal stem cells into functional odontoblast cells and is likely to function as a regulator of dentin mineralization.[2] In 2010 the Dixon group discovered that this protein represents the secretory kinase, responsible for the phosphorylation of all secreted proteins, from milk to bone proteins (Tagliabracci et al, Science 2012)[4]

Clinical significance[edit]

Mutations in the FAM20C gene are associated with Raine syndrome.[3]

References[edit]

  1. ^ Nalbant D, Youn H, Nalbant SI, Sharma S, Cobos E, Beale EG, Du Y, Williams SC (2005). "FAM20: an evolutionarily conserved family of secreted proteins expressed in hematopoietic cells". BMC Genomics 6: 11. doi:10.1186/1471-2164-6-11. PMC 548683. PMID 15676076. 
  2. ^ a b Hao J, Narayanan K, Muni T, Ramachandran A, George A (May 2007). "Dentin matrix protein 4, a novel secretory calcium-binding protein that modulates odontoblast differentiation". J. Biol. Chem. 282 (21): 15357–65. doi:10.1074/jbc.M701547200. PMID 17369251. 
  3. ^ a b Simpson MA, Hsu R, Keir LS, Hao J, Sivapalan G, Ernst LM, Zackai EH, Al-Gazali LI, Hulskamp G, Kingston HM, Prescott TE, Ion A, Patton MA, Murday V, George A, Crosby AH (November 2007). "Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development". Am. J. Hum. Genet. 81 (5): 906–12. doi:10.1086/522240. PMC 2265657. PMID 17924334. 
  4. ^ Cite error: The named reference pmid22582013 was invoked but never defined (see the help page).

Further reading[edit]