PHEX: Difference between revisions
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Revision as of 20:37, 4 September 2012
| phosphate regulating endopeptidase homolog, X-linked (hypophosphatemia, vitamin D resistant rickets) | |
|---|---|
| Identifiers | |
| Symbol | PHEX |
| Alt. symbols | HYP, HPDR |
| Entrez | 5251 |
| HUGO | 8918 |
| OMIM | 300550 |
| RefSeq | NM_000444 |
| UniProt | P78562 |
| Other data | |
| Locus | Chr. X p22.2-p22.1 |
PHEX is a gene associated with X-linked hypophosphatemia.
PHEX may regulate FGF23 expression as part of a potential hormonal axis between bone and kidney that controls systemic phosphate homeostasis and mineralization.[1] PHEX is highly expressed in cartilage, bone, and teeth, where it is present in osteoblasts, osteocytes, and odontoblasts, especially at the transition between the maturation of pre-osteoblasts to mature osteoblasts when PHEX expression is normally up-regulated.[1]