Phosphate-regulating endopeptidase gene

PHEX
Identifiers
Aliases	PHEX, HPDR, HPDR1, HYP, HYP1, LXHR, PEX, XLH, phosphate regulating endopeptidase homolog, X-linked, phosphate regulating endopeptidase homolog X-linked
External IDs	OMIM: 300550 MGI: 107489 HomoloGene: 37310 GeneCards: PHEX
Gene ontology Molecular function • zinc ion binding • peptidase activity • metalloendopeptidase activity • aminopeptidase activity • hydrolase activity • metallopeptidase activity • metal ion binding Cellular component • perinuclear region of cytoplasm • integral component of membrane • plasma membrane • Golgi apparatus • integral component of plasma membrane • endoplasmic reticulum • membrane Biological process • organophosphate metabolic process • skeletal system development • cell-cell signaling • bone mineralization • biomineral tissue development • cellular protein modification process • proteolysis • lung development • response to vitamin D • bone development • response to growth hormone • cellular response to vitamin D • cellular response to parathyroid hormone stimulus • response to sodium phosphate • response to insulin-like growth factor stimulus Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	5251	18675
Ensembl	ENSG00000102174	ENSMUSG00000057457
UniProt	P78562	P70669
RefSeq (mRNA)	NM_000444 NM_001282754	NM_011077
RefSeq (protein)	NP_000435 NP_001269683	NP_035207
Location (UCSC)	Chr X: 22.03 – 22.25 Mb	Chr X: 157.16 – 157.42 Mb
PubMed search

5251

18675

ENSG00000102174

ENSMUSG00000057457

P78562

P70669

NM_000444
NM_001282754

NM_011077

NP_000435
NP_001269683

NP_035207

Phosphate-regulating neutral endopeptidase, X-linked also known as phosphate-regulating gene with homologies to endopeptidases on the X chromosome or metalloendopeptidase homolog PEX is an enzyme that in humans is encoded by the PHEX gene. This gene contains 18 exons and is located on the X chromosome.

The protein encoded by this gene is a transmembrane endopeptidase that belongs to the type II integral membrane zinc-dependent endopeptidase family. The protein is thought to be involved in bone and dentin mineralization and renal phosphate reabsorption. The bone and dentin protein osteopontin (OPN) which inhibits mineralization in the skeleton and in teeth is a substrate for PHEX. In the absence of functional PHEX in the mouse model (Hyp) of X-linked hypophosphatemia (XLH), and in human XLH where PHEX activity is decreased or absent, in addition to renal phosphate wasting, osteopontin and osteopontin fragments accumulate in bone and teeth and may contribute locally to the osteomalacia characteristic of XLH/HYP. XLH patients have soft and deformed skeletons and soft teeth that easily become infected.

...
Wikipedia