PHEX

Phosphate-regulating neutral endopeptidase, X-linked also known as phosphate-regulating gene with homologies to endopeptidases on the X chromosome or metalloendopeptidase homolog PEX is an is_associated_with::enzyme that in humans is encoded by the PHEX is_associated_with::gene. This gene contains 18 is_associated_with::exons and is located on the is_associated_with::X chromosome.

Function
The protein encoded by this gene is a transmembrane is_associated_with::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. The bone and dentin protein osteopontin (OPN) which inhibits mineralization in the skeleton and in teeth is a substrate for PHEX. In the absence of functional PHEX in the mouse model (Hyp) of X-linked hypophosphatemia, in addition to renal phosphate wasting, osteopontin and osteopontin fragments accumulate in bone and may contribute to the osteomalacia characteristic of XLH/HYP. XLH patients have soft and deformed skeletons and soft teeth that easily become infected.

Clinical significance
Mutation of PHEX leads to is_associated_with::X-linked hypophosphatemia.