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Literature summary for 3.4.24.B15 extracted from

  • 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 (2005), J. Bone Miner. Res., 20, 1149-1160.
    View publication on PubMed

Cloned(Commentary)

Cloned (Comment) Organism
gene PHEX, localization on the X chromosome, overexpression under control of the human beta-actin promoter in transgenic mice in all tissue except for pancreas, ovary and brain Homo sapiens

Protein Variants

Protein Variants Comment Organism
additional information 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 Mus musculus
additional information overexpression of human PHEX in enzyme-deficient transgenic mutant Hyp mice does not fully rescue the Hyp mouse phenotype, overview Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
additional information Mus musculus enzyme-deficiency is involved in X-linked hypophosphatemia, Hyp, the enzyme inactivates a phosphaturic factor, which may be fibroblast growth factor 23 ?
-
?
additional information Homo sapiens enzyme-deficiency is involved in X-linked hypophosphatemia, XLH, the enzyme inactivates a phosphaturic factor, which may be fibroblast growth factor 23 ?
-
?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
gene PHEX
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Mus musculus
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gene PHEX
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
additional information enzyme-deficiency is involved in X-linked hypophosphatemia, Hyp, the enzyme inactivates a phosphaturic factor, which may be fibroblast growth factor 23 Mus musculus ?
-
?
additional information enzyme-deficiency is involved in X-linked hypophosphatemia, XLH, the enzyme inactivates a phosphaturic factor, which may be fibroblast growth factor 23 Homo sapiens ?
-
?

Synonyms

Synonyms Comment Organism
PHEX
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Mus musculus
PHEX
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Homo sapiens
phosphate-regulating gene with homologies to endiopeptidases on the X chromosome
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Homo sapiens
phosphate-regulating gene with homologies to endopeptidases on the X chromosome
-
Mus musculus