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.

关于 phex Cytogenetic location: Xp22.11 Genomic coordinates (GRCh38): X:22,032,325-22,251,310 (from NCBI) This gene has 11 transcripts (splice variants), 199 orthologues, 6 paralogues and is associated with 2 phenotypes.

A novel de novo nonsense mutation of the PHEX gene has been identified in Chinese family expanding the mutation spectrum of PHEX leading to X-linked hypophosphatemic rickets. exon 22 is the mutation hot spot and missense mutation is the most common type of mutation in the PHEX gene in Chinese X-link dominate hypophosphatemic rickets (XLH) patients

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. The PHEX enzyme could be involved in regulating the balance of phosphate in the body.

2023年6月23日 · 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. J. Clin. Endocr. Metab. 83: 3459-3462, 1998.

The PHEX gene has 22 exons spanning ~220kb and encodes a 749 amino acid protein with homology to M13 zinc metallopeptidases . 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) .

2012年6月28日 · Clinical resource with information about PHEX, Familial X-linked hypophosphatemic vitamin D refractory rickets, Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients., Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients., Genome-wide ...

2025年2月8日 · The PHEX transgene corrects mineralization defects in 9-month-old hypophosphatemic mice. PHEX rescued the inhibition of osteoblast culture mineralization by pASARM, and mass spectrometry of cleaved peptides obtained after pASARM-PHEX incubations identified pASARM as a substrate for PHEX

2004年1月1日 · This chapter presents an overview of the structural chemistry of PHEX (phosphate-regulating gene with homology to endopeptidase on the X chromosome). PHEX primary structure has been deduced from cDNA sequences cloned in several species including human. PHEX is a 749 amino acid protein.

位于高尔基体、内质网和细胞核周围的细胞质区域。在几个结构中表达，包括软骨颅骨、表皮、肢、肝和牙。用于研究x连锁显性低磷性佝偻病和中耳炎。该基因的人类同源物与x连锁显性低磷性佝偻病有关。与人类phex（x连锁磷酸调节内肽酶同源物）正交。