{"symbol":"PHEX","synonyms":["PEX","HYP1","XLH","LXHR","HPDR","HPDR1","HYP"],"name":"phosphate regulating endopeptidase homolog, X-linked","description":"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]","ncbiEntrezGeneId":5251,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/5251","proteins":[{"symbol":"PHEX_HUMAN","href":"/api/1.0/protein/PHEX_HUMAN"}],"hgncRootFamilies":[]}