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phosphate-regulating neutral endopeptidase; metalloendopeptidase homolog PEX; vitamin D-resistant hypophosphatemic rickets protein; X-linked hypophosphatemia protein; HYP (PHEX, PEX)
Function:
- probably involved in
a) bone & dentin mineralization
b) renal phosphate reabsorption
Cofactor: binds 1 Zn+2 per subunit (putative)
Structure: belongs to the peptidase M13 family
Compartment:
- membrane; single-pass type 2 membrane protein (putative)
Expression:
- expressed in lymphocytes & fetal brain
- not expressed in adult brain, placenta, skeletal muscle or pancreas
- not expressed in adult or fetal heart, lung, liver & kidney
Pathology:
- defects in PHEX are a cause of vitamin D-resistant rickets, X-linked
Laboratory:
- PHEX gene mutation
Related
vitamin D-resistant rickets, X-linked; X-linked hypophosphatemic rickets
General
glycoprotein
membrane protein
metalloprotease
Properties
SIZE: entity length = 749 aa
MW = 86 kD
COMPARTMENT: cellular membrane
MOTIF: transmembrane domain {21-41}
N-glycosylation site {N71}
N-glycosylation site {N238}
N-glycosylation site {N263}
N-glycosylation site {N290}
N-glycosylation site {N301}
N-glycosylation site {N377}
N-glycosylation site {N484}
Zn+2-binding site
SITE: 580-580
glutamate residue {E581}
Zn+2-binding site
SITE: 584-584
Zn+2-binding site
SITE: 642-642
aspartate residue {D646}
N-glycosylation site {N736}
Database Correlations
OMIM correlations
UniProt P78562
PFAM correlations
Entrez Gene 5251
Kegg hsa:5251
ENZYME 3.4.24.
References
- UniProt :accession P78562
- PHEXdb
http://www.phexdb.mcgill.ca/
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/PHEX