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PHEX

Official Full Name
phosphate regulating endopeptidase X-linked
Organism
Homo sapiens
GeneID
5251
Background
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]
Synonyms
HYP; PEX; XLH; HPDR; HYP1; LXHR; HPDR1;

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