FISPANNICFYGECSYYCSTEHALCGKPDQIEGSLAAFLPDLSLAKRKTWRNPWRRSYHKRKKAEWEVDPDYCEEVKQTPPYDSSHRILDVMDMTIFDFLMGNMDRHHYETFEKFGNETFIIHLDNGRGFGKYSHDELSILVPLQQCCRIRKSTYLRLQLLAKEEYKLSLLMAESLRGDQVAPVLYQPHLEALDRRLRVVLKAVRDCVERNG Note: The complete sequence may
include tag sequence, target protein sequence, linker sequence
and extra sequence that is translated with the protein sequence
for the purpose(s) of secretion, stability, solubility, etc.
If the exact amino acid sequence of this recombinant
protein is critical to your application, please explicitly
request the full and complete sequence of this protein before
ordering.
蛋白標簽:
N-terminal 10xHis-tagged and C-terminal Myc-tagged
產品提供形式:
Liquid or Lyophilized powder Note: We will
preferentially ship the format that we have in stock, however,
if you have any special requirement for the format, please
remark your requirement when placing the order, we will prepare
according to your demand.
緩沖液:
If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol.
If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose.
復溶:
We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20°C/-80°C. Our default final concentration of glycerol is 50%. Customers could use it as reference.
儲存條件:
Store at -20°C/-80°C upon receipt, aliquoting is
necessary for
mutiple use. Avoid repeated freeze-thaw cycles.
保質期:
The shelf life is related to many factors, storage
state,
buffer ingredients, storage temperature and the stability of the
protein
itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C.
The
shelf life of lyophilized form is 12 months at -20°C/-80°C.
貨期:
3-7 business days
注意事項:
Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
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. Constitutes the main protein kinase for extracellular proteins, generating the majority of the extracellular phosphoproteome. Mainly phosphorylates proteins within the Ser-x-Glu/pSer motif, but also displays a broader substrate specificity. Phosphorylates casein as well as a number of proteins involved in biomineralization such as AMELX, AMTN, ENAM and SPP1. In addition to its role in biomineralization, also plays a role in lipid homeostasis, wound healing and cell migration and adhesion.
基因功能參考文獻:
that FAM20C may affect the biomineralization by the means more than local phosphorylation of extracellular matrix proteins and systemic phosphorus homeostasis PMID: 28926103
Histidine-rich Ca-binding protein (HRC) was phosphorylated by family with sequence similarity 20C (Fam20C) both in vitro and in vivo. PMID: 28784772
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
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
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
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
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
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
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
phenotype in two families with non-lethal Raine syndrome with FAM20C mutations PMID: 25928877
Findings suggest that certain homozygous FAM20C mutations can cause FGF23-related hypophosphatemic osteomalacia and indicate the multiple roles of FAM20C in bone. PMID: 24982027
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
We report on a child who is homozygous for a 487-kb deletion in 7p22.3 that contains FAM20C PMID: 24039075
Fam20C phosphorylates FGF23, which promotes FGF23 proteolysis by furin by blocking O-glycosylation by polypeptide N-acetylgalactosaminyltransferase 3. PMID: 24706917
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
Our results identify FAM20C as a kinase for secreted phosphoproteins and establish a biochemical basis for Raine syndrome. PMID: 22900076
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
Osteosclerotic bone dysplasia in siblings with a Fam20C mutation PMID: 20825432
This study defines the causative role of FAM20C in this lethal osteosclerotic disorder and its crucial role in normal bone development. PMID: 17924334
Mutation of FAM20C does not always lead to the infantile lethality previously seen as a prerequisite for Raine syndrome diagnosis. PMID: 19250384