PHEX Antibody – Rabbit Polyclonal

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]

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.

Protein type: Protease; EC 3.4.24.-; Membrane protein, integral

Chromosomal Location of Human Ortholog: Xp22.2-p22.1

Cellular Component: Golgi apparatus; integral to plasma membrane; perinuclear region of cytoplasm; endoplasmic reticulum; plasma membrane

Molecular Function: zinc ion binding; metalloendopeptidase activity; aminopeptidase activity

Biological Process: cell-cell signaling; protein modification process; organophosphate metabolic process; proteolysis; skeletal development; bone mineralization

Disease: Hypophosphatemic Rickets, X-linked Dominant