PTH elevates calcium level by dissolving the salts in bone and preventing their renal excretion. Stimulates [1-14C]-2-deoxy-D-glucose (2DG) transport and glycogen synthesis in osteoblastic cells.
Hypoparathyroidism, familial isolated, 1
FIH1
A form of hypoparathyroidism, a disorder characterized by hypocalcemia and hyperphosphatemia due to a deficiency of parathyroid hormone. Clinical features include seizures, tetany and cramps. FIH1 inheritance can be autosomal dominant or recessive.
None
The disease is caused by variants affecting the gene represented in this entry.
Belongs to the parathyroid hormone family.
Proteins
Neuroscience
12861Da
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