| 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 mutation | Chromosome rearrangement | Effect | Comments |
|
|---|
| 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)) |