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PHEX / PEX 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.
Gene Name: | phosphate regulating endopeptidase homolog, X-linked |
Family/Subfamily: | Protease , Metallopeptidase M13 |
Synonyms: | PHEX, HYP, HYP1, LXHR, HPDR, PEX, XLH, HPDR1 |
Target Sequences: | NM_000444 NP_000435.3 P78562 |
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