FAM20C Antibody

1. that FAM20C may affect the biomineralization by the means more than local phosphorylation of extracellular matrix proteins and systemic phosphorus homeostasis PMID: 28926103
2. Histidine-rich Ca-binding protein (HRC) was phosphorylated by family with sequence similarity 20C (Fam20C) both in vitro and in vivo. PMID: 28784772
3. These results suggest that TET1 potentially promotes the cytodifferentiation potential of human dental pulp cells through its DNA demethylation machinery and upregulation of FAM20C protein expression. PMID: 29277934
4. findings clarify FAM20C's role in hard tissue formation and mineralization, and show that Raine syndrome is congenital sclerosing osteomalacia with cerebral calcification. PMID: 27862258
5. Alterations of Fam20C activity, promoted by myriocin and sphingolipids, are not accompanied by any significant change in Fam20C protein. These data provide the proof of concept that Fam20C activity is under the control of sphingolipid signaling PMID: 28236661
6. Our report reinforces that Raine syndrome is compatible with life, and that mild hypophosphatemia and amelogenesis imperfecta are key features of the attenuated form. PMID: 27667191
7. The Fam20C-and VLK-family of kinases mediate the phosphorylation of proteins in the secretory pathway and extracellular space.Mutation in several secretory pathway kinases cause human disease PMID: 25862977
8. by treating Fam20C expressing HEK293T cells with myriocin, a potent inhibitor of the sphingosine biosynthetic pathway, the activity of Fam20C released into the conditioned medium is substantially decreased corroborating the concept that sphingosine PMID: 25936777
9. Using CRISPR/Cas9 genome editing, mass spectrometry, and biochemistry, study identifies more than 100 secreted phosphoproteins as genuine Fam20C substrates; further, study shows that Fam20C exhibits broader substrate specificity than previously appreciated. PMID: 26091039
10. phenotype in two families with non-lethal Raine syndrome with FAM20C mutations PMID: 25928877
11. Findings suggest that certain homozygous FAM20C mutations can cause FGF23-related hypophosphatemic osteomalacia and indicate the multiple roles of FAM20C in bone. PMID: 24982027
12. Results suggest that FAM20C suppresses FGF23 production by enhancing DMP1 expression, and inactivating mutations in FAM20C cause FGF23-related hypophosphatemia by decreasing transcription of DMP1. PMID: 25026495
13. We report on a child who is homozygous for a 487-kb deletion in 7p22.3 that contains FAM20C PMID: 24039075
14. Fam20C phosphorylates FGF23, which promotes FGF23 proteolysis by furin by blocking O-glycosylation by polypeptide N-acetylgalactosaminyltransferase 3. PMID: 24706917
15. mutations in FAM20C provide a putative new mechanism in human subjects leading to dysregulated FGF23 levels, hypophosphatemia, hyperphosphaturia, dental anomalies, intracerebral calcifications and osteosclerosis of the long bones PMID: 23325605
16. Our results identify FAM20C as a kinase for secreted phosphoproteins and establish a biochemical basis for Raine syndrome. PMID: 22900076
17. Fam20C appears to be the Golgi casein kinase that phosphorylates secretory pathway proteins within S-x-E motifs; Fam20C phosphorylates caseins and several secreted proteins implicated in biomineralization; mutations in Fam20C cause an osteosclerotic bone dysplasia known as Raine syndrome PMID: 22582013
18. Osteosclerotic bone dysplasia in siblings with a Fam20C mutation PMID: 20825432
19. This study defines the causative role of FAM20C in this lethal osteosclerotic disorder and its crucial role in normal bone development. PMID: 17924334
20. Mutation of FAM20C does not always lead to the infantile lethality previously seen as a prerequisite for Raine syndrome diagnosis. PMID: 19250384

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HGNC: 22140

OMIM: 259775

KEGG: hsa:56975

STRING: 9606.ENSP00000322323

UniGene: Hs.134742