PHEX Phosphate Regulating Neutral Endopeptidase

A membrane-bound metalloendopeptidase that may play a role in the degradation or activation of a variety of PEPTIDE HORMONES and INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS. Genetic mutations that result in loss of function of this protein are a cause of HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT.

Also Known As:

PEX Phosphate Regulating Neutral Endopeptidase; Phosphate Regulating Endopeptidase Homolog, X-Linked; Phosphate Regulating Neutral Endopeptidase; X-Linked Phosphate Regulating Endopeptidase Homolog; Phosphate Regulating Endopeptidase Homolog, X Linked; X Linked Phosphate Regulating Endopeptidase Homolog

Networked: 24 relevant articles (0 outcomes, 0 trials/studies)

Bio-Agent Context: Research Results

Experts

1.	Kubota, Takuo: 2 articles (12/2021 - 01/2020)
2.	Namba, Noriyuki: 2 articles (12/2021 - 01/2019)
3.	Ohata, Yasuhisa: 2 articles (12/2021 - 01/2020)
4.	Ozono, Keiichi: 2 articles (12/2021 - 01/2020)
5.	Yamamoto, Akiko: 2 articles (12/2021 - 01/2020)
6.	Simmons, Jill H: 2 articles (12/2020 - 01/2019)
7.	Nilsson, Ola: 2 articles (01/2019 - 01/2019)
8.	Jiang, Yan: 1 article (12/2022)
9.	Li, Mei: 1 article (12/2022)
10.	Ma, Xiaosen: 1 article (12/2022)

Related Diseases

1.	Familial Hypophosphatemic Rickets (X-Linked Hypophosphatemia) 12/01/2022 - "Inactivating mutations of the gene coding for phosphate-regulating endopeptidase homolog X-linked (PHEX) cause X-linked hypophosphatemia (XLH). " 01/01/2020 - "X-linked hypophosphatemia (XLHR) is caused by loss-of-function mutations in the phosphate regulating endopeptidase homolog X-linked (PHEX) gene. " 01/01/2023 - "X-linked hypophosphatemia (XLH) is the most common inherited form of rickets, and it is caused by pathogenic inactivating variants of the phosphate-regulating endopeptidase homolog X-linked (PHEX) gene. " 01/01/2019 - "X-linked hypophosphatemia (XLH) is the most common hereditary rickets, caused by mutations in PHEX encoding the phosphate regulating endopeptidase homolog X-linked. " 01/01/2018 - "Among these diseases, X-linked hypophosphatemia (XLH), which is caused by inactivating mutations in the phosphate-regulating endopeptidase homolog, X-linked (PHEX) gene, is the most prevalent form of genetic FGF23-related hypophosphatemic rickets. "
2.	Rickets (Rachitis) 04/01/2021 - "Phosphopenic rickets may be caused by mutations in the PHEX gene (phosphate regulating endopeptidase homolog X-linked). " 01/01/2023 - "X-linked hypophosphatemia (XLH) is the most common inherited form of rickets, and it is caused by pathogenic inactivating variants of the phosphate-regulating endopeptidase homolog X-linked (PHEX) gene. " 01/07/2022 - "X-linked hypophosphataemic rickets (XLH) is a rare disease caused by a mutation in the phosphate-regulating neutral endopeptidase (PHEX) gene, located on the X chromosome. " 01/01/2022 - "While the pathomechanism for rickets is well understood, the direct role of PHEX (Phosphate-regulating neutral endopeptidase) deficiency in non-rachitic features including complex deformities, skull and dental affections remains unclear. " 01/01/2019 - "X-linked hypophosphatemia (XLH) is the most common hereditary rickets, caused by mutations in PHEX encoding the phosphate regulating endopeptidase homolog X-linked. "
3.	Osteomalacia 12/01/2022 - "X-linked dominant hypophosphatemia (XLH), the most common form of hereditary hypophosphatemic rickets/osteomalacia, is caused by loss-of-function phosphate-regulating endopeptidase homolog X-linked gene (PHEX) variants. " 01/01/2020 - "X-linked hypophosphatemia (XLH) is characterized by rickets and osteomalacia, caused by inactivating mutations in the Phosphate-regulating endopeptidase homolog X-linked (PHEX) gene. " 01/01/2020 - "Two examples of this are rare skeletal diseases having osteomalacia/odontomalacia (soft bones and teeth) - namely hypophosphatasia (HPP) and X-linked hypophosphatemia (XLH) - where inactivating mutations occur in the gene for the enzymes tissue-nonspecific alkaline phosphatase (TNAP, TNSALP, ALPL) and phosphate-regulating endopeptidase homolog X-linked (PHEX), respectively. " 01/01/2019 - "X-linked hypophosphatemia (XLH) is an inherited disease of phosphate metabolism in which inactivating mutations of the Phosphate Regulating Endopeptidase Homolog, X-Linked (PHEX) gene lead to local and systemic effects including impaired growth, rickets, osteomalacia, bone abnormalities, bone pain, spontaneous dental abscesses, hearing difficulties, enthesopathy, osteoarthritis, and muscular dysfunction. "
4.	Hypophosphatemic Rickets 02/01/2021 - "We ruled out additional mutations that lead to hypophosphatemic rickets, including phosphate-regulating endopeptidase homolog, X-linked. " 01/01/2018 - "Among these diseases, X-linked hypophosphatemia (XLH), which is caused by inactivating mutations in the phosphate-regulating endopeptidase homolog, X-linked (PHEX) gene, is the most prevalent form of genetic FGF23-related hypophosphatemic rickets. " 05/01/2011 - "Mutations in the phosphate-regulating endopeptidase homolog, X-linked, gene (PHEX), which encodes a zinc-dependent endopeptidase that is involved in bone mineralization and renal phosphate reabsorption, cause the most common form of hypophosphatemic rickets, X-linked hypophosphatemic rickets (XLH). "
5.	Hypophosphatemia 01/01/2022 - "X-linked hypophosphataemia (XLH) is an X-linked dominant rare disease that refers to the most common hereditary hypophosphatemia (HH) caused by mutations in the phosphate-regulating endopeptidase homolog X-linked gene (PHEX; OMIM: * 300550). " 12/01/2022 - "X-linked dominant hypophosphatemia (XLH), the most common form of hereditary hypophosphatemic rickets/osteomalacia, is caused by loss-of-function phosphate-regulating endopeptidase homolog X-linked gene (PHEX) variants. " 12/01/2020 - "Hypophosphatemia in XLH is caused by loss of function mutations in the phosphate-regulating endopeptidase homolog X-linked (PHEX) gene, resulting in excess levels of the phosphate-regulating hormone fibroblast growth factor 23 (FGF23), which leads to renal phosphate wasting and decreased serum 1,25-dihydroxyvitamin D production. "

Related Drugs and Biologics

1.	Phosphates (Orthophosphate)
2.	Fibroblast Growth Factor-23
3.	Hormones (Hormone)
4.	Alkaline Phosphatase
5.	Zinc
6.	Vitamin D
7.	Proteins (Proteins, Gene)
8.	Phosphorus (Red Phosphorus)
9.	Phosphoric Monoester Hydrolases (Phosphatases)
10.	Phosphoric Diester Hydrolases (Phosphodiesterases)

Related Therapies and Procedures

1.	Therapeutics