Probably involved in bone and dentin mineralization and renal phosphate reabsorption. Defects in PHEX are a cause of hypophosphatemic rickets, X-linked dominant (XLHR). XLHR is an X-linked dominant disorder characterized by impaired phosphate uptake in the kidney, which is likely to be caused by abnormal regulation of sodium phosphate cotransport in the proximal tubules. Clinical manifestations include skeletal deformities, growth failure, craniosynostosis, paravertebral calcifications, pseudofractures in lower extremities, and muscular hypotonia with onset in early childhood. X-linked hypophosphatemic rickets is the most common form of hypophosphatemia with an incidence of 1 in 20000. Belongs to the peptidase M13 family. Note: This description may include information from UniProtKB.
Protein type: EC 3.4.24.-; Membrane protein, integral; Protease