phosphate-regulating neutral endopeptidase; metalloendopeptidase homolog PEX; vitamin D-resistant hypophosphatemic rickets protein; X-linked hypophosphatemia protein; HYP (PHEX, PEX)

Function

• probably involved in
  • bone & dentin mineralization
  • 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

More general terms

• metalloprotease
• glycoprotein
• membrane protein

Additional terms

• vitamin D-resistant rickets, X-linked; X-linked hypophosphatemic rickets

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=5251
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:5251
• OMIM: https://mirror.omim.org/entry/300550
• OMIM: https://mirror.omim.org/entry/307800
• UniProt: http://www.uniprot.org/uniprot/P78562.html