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Literature summary for 3.4.24.B15 extracted from

  • Chandran, M.; Chng, C.L.; Zhao, Y.; Bee, Y.M.; Phua, L.Y.; Clarke, B.L.
    Novel PHEX Gene Mutation Associated with X Linked Hypophosphatemic Rickets (2010), Nephron. Physiol., 116, 17-21.
    View publication on PubMed

Organism

Organism UniProt Comment Textmining
Homo sapiens
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-
-

Synonyms

Synonyms Comment Organism
PHEX
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Homo sapiens

General Information

General Information Comment Organism
malfunction 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 Homo sapiens
physiological 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 Homo sapiens