Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Synonyms | Comment | Organism |
---|---|---|
PHEX | - |
Homo sapiens |
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 |