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UniProt functional annotation for P01270 | ||
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| UniProt code: P01270. |
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| Organism: | |
Homo sapiens (Human). |
| Taxonomy: | |
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. |
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| Function: | |
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. {ECO:0000269|PubMed:21076856}. |
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| Subunit: | |
Interacts with PTH1R (via N-terminal extracellular domain). {ECO:0000269|PubMed:18375760}. |
| Subcellular location: | |
Secreted. |
| Disease: | |
Hypoparathyroidism, familial isolated, 1 (FIH1) [MIM:146200]: 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. {ECO:0000269|PubMed:10523031, ECO:0000269|PubMed:18056632, ECO:0000269|PubMed:2212001}. Note=The disease is caused by variants affecting the gene represented in this entry. |
| Similarity: | |
Belongs to the parathyroid hormone family. {ECO:0000305}. |
Annotations taken from UniProtKB at the EBI.