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PHEX / PEX

phosphate regulating endopeptidase homolog, X-linked

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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For RESEARCH USE ONLY. Intended for use by laboratory professionals. Not intended for human diagnostic or therapeutic purposes.

The data on this page has been compiled from LifeSpan internal sources, the National Center for Biotechnology Information (NCBI), and The Universal Protein Resource (UniProt).

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