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PHEX 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
Chromosomal Location of Human Ortholog: Xp22.11
Cellular Component: endoplasmic reticulum; Golgi apparatus; integral component of plasma membrane; perinuclear region of cytoplasm; plasma membrane
Molecular Function: aminopeptidase activity; metalloendopeptidase activity; zinc ion binding
Biological Process: bone mineralization; cell-cell signaling; cellular protein modification process; lung development; organophosphate metabolic process; proteolysis; skeletal system development
Disease: Hypophosphatemic Rickets, X-linked Dominant
Reference #:  P78562 (UniProtKB)
Alt. Names/Synonyms: HPDR; HPDR1; HYP; HYP1; Metalloendopeptidase homolog PEX; PEX; PHEX; phosphate regulating endopeptidase homolog, X-linked; phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets); Phosphate-regulating neutral endopeptidase; Vitamin D-resistant hypophosphatemic rickets protein; X-linked hypophosphatemia protein; XLH
Gene Symbols: PHEX
Molecular weight: 86,474 Da
Basal Isoelectric point: 8.91  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

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