Full name: phosphate regulating endopeptidase X-linked

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH

Summary: 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]

Expression: Broad expression in lung (RPKM 1.3), endometrium (RPKM 1.1) and 15 other tissues

Gene size: 218986bp

Exon count: 26