PHEX: Difference between revisions
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'''PHEX''' is a gene associated with [[X-linked hypophosphatemia]]. | '''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.<ref name=Liu>{{ cite journal |author=Liu S, Guo R, Simpson LG, Xiao ZS, Burnham CE, Quarles LD |title=Regulation of fibroblastic growth factor 23 expression but not degradation by PHEX |journal=J Biol Chem. |year=2003 |month=Sep |volume=278 |issue=39 |pages=37419-26 |pmid=12874285 |doi=10.1074/jbc.M304544200 }}</ref> PHEX is highly expressed in [[cartilage]], bone, and [[teeth]], where it is present in [[osteoblast]]s, [[osteocyte]]s, and [[odontoblast]]s, especially at the transition between the maturation of pre-osteoblasts to mature osteoblasts when PHEX expression is normally up-regulated.<ref name=Liu/> | [[PHEX]] may regulate FGF23 expression as part of a potential hormonal axis between [[bone]] and [[kidney]] that controls systemic [[phosphate homeostasis]] and mineralization.<ref name=Liu>{{ cite journal |author=Liu S, Guo R, Simpson LG, Xiao ZS, Burnham CE, Quarles LD |title=Regulation of fibroblastic growth factor 23 expression but not degradation by PHEX |journal=J Biol Chem. |year=2003 |month=Sep |volume=278 |issue=39 |pages=37419-26 |pmid=12874285 |doi=10.1074/jbc.M304544200 }}</ref> PHEX is highly expressed in [[cartilage]], bone, and [[teeth]], where it is present in [[osteoblast]]s, [[osteocyte]]s, and [[odontoblast]]s, especially at the transition between the maturation of pre-osteoblasts to mature osteoblasts when PHEX expression is normally up-regulated.<ref name=Liu/> | ||
=References= | =References= | ||
Revision as of 20:22, 5 May 2009
| 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]