PHEX Gene - GeneCards | PHEX Protein | PHEX Antibody
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 …
磷酸盐调节内肽酶 X 连锁（PHEX）基因 | MCE
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 …
PHEX phosphate regulating endopeptidase X-linked [ (human)]
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. …
PHEX gene - MedlinePlus
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 …
Entry - *300550 - PHOSPHATE-REGULATING ENDOPEPTIDASE, X-LINKED; PHEX …
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 …
PHEX - Rare Disease Genes
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 …
PHEX phosphate regulating endopeptidase X-linked
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 …
Phex phosphate regulating endopeptidase homolog, X-linked
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 …
PHEX endopeptidase - ScienceDirect
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 …
Phex小鼠基因|Phex基因功能|Phex小鼠模型-RDDC官网
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 …
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