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
Gene: PTCHD1-AS
Alternate names for this Gene:
Gene Summary:
Gene is located in Chromosome:
Location in Chromosome :
Description of this Gene:
Type of Gene:
rs137853270 in
PHEX;PTCHD1-AS gene and
Hypophosphatemic Rickets, X-Linked Dominant
PMID 10737991 2000 Identification of fifteen novel PHEX gene mutations in Finnish patients with 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 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 11004247 2000 Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets.
PMID 9199930 1997 Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets.
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 19219621 2009 PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets.