Gene: PHEX

Alternate names for this Gene: HPDR|HPDR1|HYP|HYP1|LXHR|PEX|XLH

Gene Summary: 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.

Gene is located in Chromosome: X

Location in Chromosome : Xp22.11

Description of this Gene: phosphate regulating endopeptidase homolog X-linked

Type of Gene: protein-coding

rs1540283 in PHEX gene and Cytokine Measurement PMID 22610502 2012 Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.

rs137853269 in PHEX gene and Hypophosphatemic Rickets, X-Linked Dominant PMID 9768646 1998 A PHEX gene mutation is responsible for adult-onset vitamin D-resistant hypophosphatemic osteomalacia: evidence that the disorder is not a distinct entity from X-linked hypophosphatemic rickets.

PMID 9097956 1997 Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP).

PMID 9106524 1997 Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets.

PMID 9199930 1997 Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets.

PMID 9768674 1998 Mutational analysis of PHEX gene in X-linked hypophosphatemia.

PMID 10439971 1999 Non-random distribution of mutations in the PHEX gene, and under-detected missense mutations at non-conserved residues.

PMID 11004247 2000 Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets.

PMID 10737991 2000 Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets.

rs178710 in PHEX gene and Inorganic phosphate measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs178710 in PHEX gene and Phosphorus measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.