Synonyms:ENTREZ:5251, HGNC:8918, HPDR, HPDR1, HYP, HYP1, LXHR, MIM:300550, NM_000444, NM_001282754, NP_000435, NP_001269683, PEX, PHEX, XLH, XM_011545533, XM_011545536, XM_017029579, XM_024452390, XP_011543835, XP_011543838, XP_016885068, XP_024308158, XR_001755695, phosphate regulating endopeptidase homolog X-linked
Id:ENSG00000102174
Description:phosphate regulating endopeptidase X-linked
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]