3.4.24.B15: PHEX peptidase
This is an abbreviated version!
For detailed information about PHEX peptidase, go to the full flat file.
Reaction
proteolytic degradation of proteins
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Synonyms
dPHEX, HYP, M13.091, matrix metalloprotease 2 C-terminal hemopexin-like domain, matrix metalloprotease 2 hemopexin domain, metalloendopeptidase homolog PEX, PEX, PHEX, PHEX enzyme, PHEX homologue, phosphate regulating neutral endopeptidase, phosphate-regulating gene with homologies to endiopeptidases on the X chromosome, phosphate-regulating gene with homologies to endo-peptidases on the X chromosome, phosphate-regulating gene with homologies to endopeptidases on the X chromosome, phosphate-regulating gene with homologies to endopeptidases on the X-chromosome, phosphate-regulating neutral endopeptidase, vitamin D-resistant hypophosphatemic rickets protein, X-linked hypophosphatemia protein
ECTree
General Information
General Information on EC 3.4.24.B15 - PHEX peptidase
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metabolism
in squamous cell carcinoma cells, PHEX is degraded by endogenous cysteine proteases. Inhibition of cysteine proteases rescues membrane PHEX and osteopontin processing
malfunction
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nonsense mutation in exon 3 of the PHEX gene (Glu96, 286G>T) causing X-linked hypophosphatemia, PHEX gene is located on Xp22.1 and consists of 22 exons encoding a 749-amino-acid protein that is homologous to a family of neutral endopeptidases, including neprilysin, endothelin-converting enzyme-1 and the KELL antigen
malfunction
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X-linked hypophosphatemia is caused by inactivating mutations in PHEX, a gene encoding for a protease responsible for the degradation and clearance of mineralization-inhibiting ASARM peptides
malfunction
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inactivation of PHEX results in equivalent intrinsic bone mineralization defects and increased fibroblastic growth factor 23 expression in osteocytes
malfunction
defects in PHEX are responsible for X-linked hypophosphatemic rickets. Loss of enzyme function causes defective mineralization, hypophosphatemia, abnormal vitamin-D metabolism and gross skeletal abnormalities. Loss of enzyme activity leads to increased fibroblast growth factor 23 expression
malfunction
enzyme defects are responsible for X-linked hypophosphatemic rickets
physiological function
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nonsense mutation in exon 3 of the PHEX gene (Glu96, 286G>T) causing X-linked hypophosphatemia, PHEX gene is located on Xp22.1 and consists of 22 exons encoding a 749-amino-acid protein that is homologous to a family of neutral endopeptidases, including neprilysin, endothelin-converting enzyme-1 and the KELL antigen
physiological function
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X-linked hypophosphatemia is caused by inactivating mutations in PHEX, a gene encoding for a protease responsible for the degradation and clearance of mineralization-inhibiting ASARM peptides
physiological function
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PHEX and DMP1 control a common pathway regulating bone mineralization and fibroblastic growth factor 23 production, the latter involving activation of the fibroblastic growth factor receptor signaling in osteocytes