PHEX( Human )

Entrez Gene 5251 Entrez Gene 5251
phosphate regulating endopeptidase homolog, X-linked

Alias

HPDR|HPDR1|HYP|HYP1|LXHR|PEX|XLH

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].

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