PTH

Chr 11p15.3

parathyroid hormone

Aliases:: PTH1
MANE:: ENST00000282091.6

OMIM: 168450 ↗NCBI: 5741 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

PTH · P01270

v62025-08-01

Predicted Aligned Error matrix for PTH — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

72.1/ 100

Confident

115 residues

Confidence breakdown

Very high(≥ 90)30%
Confident(70–90)18%
Low(50–70)44%
Very low(< 50)8%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Familial hypoparathyroidism
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

hypoparathyroidism, familial isolated 1
0.71
Familial isolated hypoparathyroidism
0.71
neurodegenerative disease
0.40
familial isolated hypoparathyroidism due to impaired PTH secretion
0.37
primary hyperparathyroidism
0.35
Alzheimer disease
0.35
Parkinson disease
0.34
multiple sclerosis
0.34
lysosomal storage disease
0.33
familial hypoparathyroidism
0.33

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Parathyroid hormone

Parathyroid hormone elevates calcium level by dissolving the salts in bone and preventing their renal excretion (PubMed:11604398, PubMed:35932760). Acts by binding to its receptor, PTH1R, activating G protein-coupled receptor signaling (PubMed:18375760, PubMed:35932760). Stimulates [1-14C]-2-deoxy-D-glucose (2DG) transport and glycogen synthesis in osteoblastic cells (PubMed:21076856)