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protein + H2O
peptides
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protein FGF-23 + H2O
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aspartate-rich matrix extracellular phosphoglycoprotein-associated motif peptide + H2O
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NH2-RDDSSESSDSGS(PO3H2)SS(PO3H2)ES(PO3H2)DGD-OH + H2O
?
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ZAAL-4-nitroanilide + H2O
Z-Ala-Ala-Leu + 4-nitroaniline
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recombinant wild-type enzyme, not the recombinant mutant
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?
additional information
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protein + H2O
peptides
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protein + H2O
peptides
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protein + H2O
peptides
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inactivating mutations cause X-linked hypophosphatemia, i.e. XLH, which results in the local accumulation of an unknown autocrine/paracrine factor in bone that inhibits mineralization of extracellular matrix
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additional information
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human stanniocalcin STC-1 is no substrate, recombinant rat parathyroid hormone is no substrate for the wild-type and mutant recombinant enzyme
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additional information
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the recombinant enzyme, but not the C-terminal deletion mutant, inhibited the cleavage of recombinant human matrix phosphoglycoprotein MEPE by endogenous cathepsin-like enzyme activity in SF9 insect cells, MEPE is no substrate for PHEX
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additional information
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enzyme-deficiency is involved in X-linked hypophosphatemia, Hyp, the enzyme inactivates a phosphaturic factor, which may be fibroblast growth factor 23
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100000
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x * 60000, recombinant C-terminally truncated mutant, SDS-PAGE, x * 86000, deglycosylated recombinant enzyme, SDS-PAGE, x * 100000, glycosylated recombinant enzyme, SDS-PAGE
60000
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x * 60000, recombinant C-terminally truncated mutant, SDS-PAGE, x * 86000, deglycosylated recombinant enzyme, SDS-PAGE, x * 100000, glycosylated recombinant enzyme, SDS-PAGE
86000
-
x * 60000, recombinant C-terminally truncated mutant, SDS-PAGE, x * 86000, deglycosylated recombinant enzyme, SDS-PAGE, x * 100000, glycosylated recombinant enzyme, SDS-PAGE
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K496X
mice carrying a point mutation in exon 14 of the Phex gene that introduces a stop codon at amino acid 496 of the coding sequence exhibit the classic clinical manifestations of XLH, including growth retardation, skeletal abnormalities (rickets/osteomalacia), hypophosphatemia, and increased serum alkaline phosphatase levels
K496X
mutant mice have increased Fgf23 expression and reduced proteolytic cleavage of intact Fgf23 protein, resulting in markedly elevated intact Fgf23 levels and consequent hypophosphatemia
additional information
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construction of an inactive C-terminal deletion mutant of the enzyme
additional information
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construction of C-terminally truncated enzyme version
additional information
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generation of two mouse lines overexpressing human PHEX, the expression of the hunan gene in transgenic mutant Hyp mice does not fully rescue the Hyp mouse phenotype, heterozygous mice show normal bone and mineral ion homeostasis, Hyp mice show reduced body weight, hypophosphatemia, hyperphosphaturia, and rickets, detailed overview
additional information
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mutation of Phex leads to the dominant disorder hypophosphatemia which is associated with a renal waste of phosphate and defective bone mineralization
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Boeckmann, B.; Bairoch, A.; Apweiler, R.; Blatter, M.C.; Estreicher, A.; Gasteiger, E.; Martin M.J.; Michoud, K.; O'Donovan, C.; Phan, I.; Pilbout, S.; Schneider, M.
The SWISS-PROT protein knowledgebase and its supplement TrEMBL
Nucleic Acids Res.
31
365-370
2003
Homo sapiens (P78562), Mus musculus (P70669)
brenda
Guo, R.; Liu, S.; Spurney, R.F.; Quarles, L.D.
Analysis of recombinant Phex: an endopeptidase in search of a substrate
Am. J. Physiol.
281
E837-847
2001
Homo sapiens, Mus musculus
brenda
Guo, R.; Rowe, P.S.; Liu, S.; Simpson, L.G.; Xiao, Z.S.; Darryl Quarles, L.D.
Inhibition of MEPE cleavage by Phex
Biochem. Biophys. Res. Commun.
297
38-45
2002
Mus musculus
brenda
Alos, N.; Ecarot, B.
Downregulation of osteoblast Phex expression by PTH
Bone
37
589-598
2005
Mus musculus, Mus musculus C57/BL6J
brenda
Erben, R.G.; Mayer, D.; Weber, K.; Jonsson, K.; Jueppner, H.; Lanske, B.
Overexpression of human PHEX under the human beta-actin promoter does not fully rescue the Hyp mouse phenotype
J. Bone Miner. Res.
20
1149-1160
2005
Homo sapiens, Mus musculus
brenda
Yuan, B.; Takaiwa, M.; Clemens, T.L.; Feng, J.Q.; Kumar, R.; Rowe, P.S.; Xie, Y.; Drezner, M.K.
Aberrant Phex function in osteoblasts and osteocytes alone underlies murine X-linked hypophosphatemia
J. Clin. Invest.
118
722-734
2008
Mus musculus
brenda
Boskey, A.; Frank, A.; Fujimoto, Y.; Spevak, L.; Verdelis, K.; Ellis, B.; Troiano, N.; Philbrick, W.; Carpenter, T.
The PHEX transgene corrects mineralization defects in 9-month-old hypophosphatemic mice
Calcif. Tissue Int.
84
126-137
2009
Mus musculus (P70669)
brenda
Guo, R.; Quarles, L.D.
Cloning and sequencing of human PEX from a bone cDNA library: evidence for its developmental stage-specific regulation in osteoblasts
J. Bone Miner. Res.
12
1009-1017
1997
Homo sapiens (P78562), Mus musculus (P70669)
brenda
David, V.; Martin, A.; Hedge, A.M.; Drezner, M.K.; Rowe, P.S.
ASARM peptides: PHEX-dependent and -independent regulation of serum phosphate
Am. J. Physiol. Renal Physiol.
300
F783-F791
2011
Mus musculus
brenda
Martin, A.; Liu, S.; David, V.; Li, H.; Karydis, A.; Feng, J.Q.; Quarles, L.D.
Bone proteins PHEX and DMP1 regulate fibroblastic growth factor Fgf23 expression in osteocytes through a common pathway involving FGF receptor (FGFR) signaling
FASEB J.
25
2551-2562
2011
Mus musculus
brenda
Ichikawa, S.; Austin, A.; Gray, A.; Econs, M.
A Phex mutation in a murine model of X-linked hypophosphatemia alters phosphate responsiveness of bone cells
J. Bone Miner. Res.
27
453-460
2012
Mus musculus (P70669)
brenda
Owen, C.; Chen, F.; Flenniken, A.M.; Osborne, L.R.; Ichikawa, S.; Adamson, S.L.; Rossant, J.; Aubin, J.E.
A novel Phex mutation in a new mouse model of hypophosphatemic rickets
J. Cell. Biochem.
113
2432-2441
2012
Mus musculus (P70669)
brenda