Description
Product Characteristics:
Probably involved in bone and dentin mineralization and renal phosphate reabsorption.
Subcellular location: Cell membrane
Synonyms: HYP, PEX, XLH, HPDR, HYP1, LXHR, HPDR1, Phosphate-regulating neutral endopeptidase, Metalloendopeptidase homolog PEX, Vitamin D-resistant hypophosphatemic rickets protein, X-linked hypophosphatemia protein, PHEX
Target Information: 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. [provided by RefSeq, Jul 2008]