2024年12月25日 · PHEX (Phosphate Regulating Endopeptidase X-Linked) is a Protein Coding gene. Diseases associated with PHEX include Hypophosphatemic Rickets, X-Linked Dominant and Hypophosphatemic Rickets. Among its related pathways is FGF23 signaling in hypophosphatemic rickets and related disorders.

2012年2月9日 · Single-gene testing. Sequence analysis of PHEX is performed first to detect missense, nonsense, and splice site variants and small intragenic deletions/insertions. Note: Depending on the sequencing method used, single-exon, multiexon, or whole-gene deletions/duplications may not be detected.

The PHEX gene provides instructions for making an enzyme that is active primarily in bones and teeth. Studies suggest that it cuts (cleaves) other proteins into smaller pieces; however, the proteins cleaved by the PHEX enzyme have not been identified.

Novel PHEX gene locus-specific database: Comprehensive characterization of vast number of variants associated with X-linked hypophosphatemia (XLH). Long-term effect of conventional phosphate and calcitriol treatment on metabolic recovery and catch-up growth in children with PHEX mutation.

The PHEX gene has 22 exons spanning ~220kb and encodes a 749 amino acid protein with homology to M13 zinc metallopeptidases (1). In various in vitro assays, the PHEX protein has been shown to cleave putative target proteins at ASARM peptide motifs, but the physiological protein targets for PHEX cleavage are not known (2, 3).

The PHEX gene, named to signify Phosphate regulating gene with Homologies to Endopeptidases located on the X chromosome, was identified in 1995 as the gene disrupted in X-Linked Hypophosphatemia (XLH), the most common form of hereditary hypophosphatemic rickets .

2024年8月21日 · X-linked hypophosphataemia is a genetic disease caused by defects in the phosphate regulating endopeptidase homolog X-linked (PHEX) gene and is characterised by X-linked dominant inheritance. The main consequence of PHEX deficiency is increased production of the phosphaturic hormone fibroblast growth factor 23 (FGF23) in osteoblasts and osteocytes.

PHEX (phosphate-regulating gene with homologies to endopeptidases on the X chromosome) is a member of the M13 family of Type II cell-surface Zn2+ -dependent endopeptidases. It was identified by positional cloning as a gene in which inactivating mutations caused XLH.

The phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX) gene comprises 22 exons and encodes a transmembrane endopeptidase belonging to the type II integral membrane zinc-dependent endopeptidase family.

2012年6月28日 · 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.