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last update : 30-11-2016
Symbol HRPT4
Location 6p24.2
Name hyperparathyroidism 4
Corresponding gene GCM2
Main clinical features
  • familial isolated hyperparathyroidism, with parathyroid hormone excess and hypercalcemia and caused by hypersecreting parathyroid glands
  • Genetic determination autosomal dominant
    Function/system disorder endocrinology
    Type disease
    Gene mutationChromosome rearrangementEffectComments
    various types   abnormal protein/gain of function  
    Remark(s) . gain-of-function mutations that increased the transcriptional activity of GCM2, suggesting that GCM2 is a parathyroid proto-oncogene (PMID: 27745835))