Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UNIPROT:Q8IXL6 (
RNS
)
1,091
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
FGF23 produced mainly by osteocytes plays a central role in phosphate homeostasis by increasing the renal phosphate excretion and suppressing the vitamin D activation. Mutations in FGF23 and its regulatory molecules such as PHEX, DMP1, and
FAM20C
have been shown to be responsible for hereditary hypophosphatemic diseases. Patients and animal models of these hypophosphatemic conditions often manifest dental defects, whose etiology may include hypophosphatemia and impaired vitamin D action. In addition, the mechanisms specific to each responsible gene such as accumulated ASARM peptides in PHEX deficiency and the reduced
DSPP
expression in DMP1 deficiency are also involved in the pathogenesis of these dental problems.
...
PMID:[Phosphate homeostasis and oral diseases]. 2650 76
