XB-FEAT-1012246

phex

This is the community wiki page for the gene phex please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase

nomenclature changes

17JULY2022

Human name has changed for Entrez Gene: 5251. From phosphate regulating endopeptidase homolog X-linked to phosphate regulating endopeptidase X-linked

summary for human PHEX from NCBI

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. Mutations in this gene cause X-linked hypophosphatemic rickets. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]