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Results 1 - 9 of 9
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EC Number General Information Commentary Reference
Display the word mapDisplay the reaction diagram Show all sequences 3.4.24.B15malfunction 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 733619
Display the word mapDisplay the reaction diagram Show all sequences 3.4.24.B15malfunction enzyme defects are responsible for X-linked hypophosphatemic rickets 733683
Display the word mapDisplay the reaction diagram Show all sequences 3.4.24.B15malfunction inactivation of PHEX results in equivalent intrinsic bone mineralization defects and increased fibroblastic growth factor 23 expression in osteocytes 719437
Display the word mapDisplay the reaction diagram Show all sequences 3.4.24.B15malfunction 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 713105
Display the word mapDisplay the reaction diagram Show all sequences 3.4.24.B15malfunction 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 712537
Display the word mapDisplay the reaction diagram Show all sequences 3.4.24.B15metabolism in squamous cell carcinoma cells, PHEX is degraded by endogenous cysteine proteases. Inhibition of cysteine proteases rescues membrane PHEX and osteopontin processing 753827
Display the word mapDisplay the reaction diagram Show all sequences 3.4.24.B15physiological function 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 713105
Display the word mapDisplay the reaction diagram Show all sequences 3.4.24.B15physiological function 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 719437
Display the word mapDisplay the reaction diagram Show all sequences 3.4.24.B15physiological function 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 712537
Results 1 - 9 of 9
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