PHEX (phosphate regulating endopeptidase homolog X-linked)

2017-10-01  

Identity

HGNC
LOCATION
Xp22.11
LOCUSID
ALIAS
HPDR,HPDR1,HYP,HYP1,LXHR,PEX,XLH
FUSION GENES

Other Information

Locus ID:

NCBI: 5251
MIM: 300550
HGNC: 8918
Ensembl: ENSG00000102174

Variants:

dbSNP: 5251
ClinVar: 5251
TCGA: ENSG00000102174
COSMIC: PHEX

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000102174ENST00000379374P78562

Expression (GTEx)

0
1
2
3
4
5
6

References

Pubmed IDYearTitleCitations
128742852003Regulation of fibroblastic growth factor 23 expression but not degradation by PHEX.135
127916012003FGF23, PHEX, and MEPE regulation of phosphate homeostasis and skeletal mineralization.74
152688972004FGF23 is processed by proprotein convertases but not by PHEX.62
181725532008Aberrant Phex function in osteoblasts and osteocytes alone underlies murine X-linked hypophosphatemia.50
186606702008PHEX, FGF23, DMP1 and beyond.27
159403672005Overexpression of human PHEX under the human beta-actin promoter does not fully rescue the Hyp mouse phenotype.26
126789202003Human recombinant endopeptidase PHEX has a strict S1' specificity for acidic residues and cleaves peptides derived from fibroblast growth factor-23 and matrix extracellular phosphoglycoprotein.25
192196212009PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets.24
160559332005A clinical and molecular genetic study of hypophosphatemic rickets in children.20
226958912012Mutational analysis of PHEX, FGF23, DMP1, SLC34A3 and CLCN5 in patients with hypophosphatemic rickets.12

Citation

Dessen P

PHEX (phosphate regulating endopeptidase homolog X-linked)

Atlas Genet Cytogenet Oncol Haematol. 2017-10-01

Online version: http://atlasgeneticsoncology.org/gene/57168/phex