PHEX
Chr XXLDphosphate regulating endopeptidase X-linked
Also known as: HPDR, HPDR1, HYP, HYP1, LXHR, PEX, XLH
This transmembrane endopeptidase cleaves ASARM peptides derived from bone matrix proteins, thereby regulating bone and dentin mineralization as well as renal phosphate reabsorption. Mutations cause X-linked hypophosphatemic rickets, which typically presents in early childhood with skeletal deformities, short stature, and dental abnormalities. The gene is highly constrained against loss-of-function variants, indicating mutations are likely to have significant clinical consequences.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PHEX · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Phosphorus-31 Spectroscopy in Phosphate Diabetes
NOT YET RECRUITINGRegistry for Patients With X-Linked Hypophosphatemia
RECRUITINGExternal Resources
Links to major genomics databases and tools