PTH Chromosome 11
Parathyroid hormone
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What This Gene Does
This gene encodes a member of the parathyroid family of proteins. The encoded preproprotein is proteolytically processed to generate a protein that binds to the parathyroid hormone/parathyroid hormone-related peptide receptor and regulates blood calcium and phosphate levels. Excess production of the encoded protein, known as hyperparathyroidism, can result in hypercalcemia and kidney stones. On the other hand, defective processing of the encoded protein may lead to hypoparathyroidism, which can result in hypocalcemia and numbness. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
Gene Info
Gene Group
Receptor ligands
Locus Type
gene with protein product
Location
11p15.3
Ensembl
ENSG00000152266
Associated Conditions (4)
Primary hyperparathyroidism
Familial hypoparathyroidism
Hypoparathyroidism
familial isolated 1
Key Variants
RS199955107
Likely pathogenic
Health Risk
RS2134093283
Likely pathogenic
Health Risk
RS6256
Likely pathogenic
Primary hyperparathyroidism, Familial hypoparathyroidism, Primary hyperparathyroidism
Health Risk
RS104894271
Pathogenic
Hypoparathyroidism, familial isolated 1, Hypoparathyroidism
Health Risk
RS104894272
Pathogenic
Hypoparathyroidism, familial isolated 1, Hypoparathyroidism
Health Risk
RS1183577696
Pathogenic
Health Risk
RS2134093224
Pathogenic
Hypoparathyroidism, familial isolated 1, Hypoparathyroidism
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS199955107 | Health Risk | Likely pathogenic | — |
| RS2134093283 | Health Risk | Likely pathogenic | — |
| RS6256 | Health Risk | Likely pathogenic | Primary hyperparathyroidism, Familial hypoparathyroidism, Primary hyperparathyroidism |
| RS104894271 | Health Risk | Pathogenic | Hypoparathyroidism, familial isolated 1, Hypoparathyroidism |
| RS104894272 | Health Risk | Pathogenic | Hypoparathyroidism, familial isolated 1, Hypoparathyroidism |
| RS1183577696 | Health Risk | Pathogenic | — |
| RS2134093224 | Health Risk | Pathogenic | Hypoparathyroidism, familial isolated 1, Hypoparathyroidism |