PHEX wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human PHEX wild-type allele is located in the vicinity of Xp22.11 and is approximately 462 kb in length. This allele, which encodes phosphate-regulating neutral endopeptidase PHEX protein, is involved in the cleavage of peptides that mediates osteogenic cell differentiation, bone mineralization, dentin mineralization and renal phosphate reabsorption. Mutations in the gene are associated with X-linked dominant hypophosphatemic rickets.

**Synonyms:** - HPDR - HPDR1 - HYP - HYP1 - LXHR - PEX - PHEX Peptidase Gene - Phosphate Regulating Endopeptidase Homolog X-Linked Gene - Phosphate Regulating Endopeptidase X-Linked wt Allele - Phosphate Regulating Gene with Homologies to Endopeptidases on the X Chromosome (Hypophosphatemia, Vitamin D Resistant Rickets) Gene - Phosphate-Regulating Endopeptidase Homolog, X-Linked Gene - Phosphate-Regulating Endopeptidase, X-Linked Gene - Phosphate-Regulating Neutral Endopeptidase Gene - XLH