| Symbol
| PTH
|
| Location
| 11p15.2-p15.1
|
| Name
|
hypoparathyroidism, familial, isolated |
| Corresponding gene
|
PTH
|
| Main clinical features
|
characterized by hypocalcemia and hyperphosphatemia, because parathyroid hormone secreted from the parathyroid glands is insufficient to maintain normal extracellular fluid calcium concentration |
| Genetic determination
| autosomal recessive |
|
| autosomal dominant |
| Function/system disorder
| endocrinology |
| Type
| disease
|
| Name
| parathyroid hormone (PTH)
|
| Gene mutation | Chromosome rearrangement | Effect | Comments |
|
|---|
| missense
|
| abnormal protein/loss of function
| Cys > Arg mutation (C18R) in the hydrophobic core of the signal peptide, mostly frequent mutation
| |
| Remark(s)
|
the signal sequence mutation (C18R) lead to processing-defective PTH that accumulates intracellularly, predominantly within the ER, and this accumulation results in their apoptotic death from chronic ER stress |