PHEX, Official Symbol PHEXprovided by HGNC Official Full Name phosphate regulating endopeptidase X-linkedprovided by HGNC Primary source HGNC:HGNC:8918 See related Ensembl:ENSG00000102174 MIM:300550; AllianceGenome:HGNC:8918 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HYP; PEX; XLH; HPDR; HYP1; LXHR; HPDR1 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 See more Orthologs mouse all