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Article

Human diseases caused by homozygous PTH1R mutations.

Frontiers in endocrinology - 1 Jan 2025

Portales-Castillo Ignacio, Höppner Jakob, Jüppner Harald, Gardella Thomas J

Abstract excerpt

The parathyroid hormone receptor type 1 (PTH1R) is a G protein-coupled receptor that mediates the actions of parathyroid hormone (PTH) in the regulation of blood calcium levels, as well as PTH-related protein (PTHrP) in the regulation of skeletal development. Severe loss-of-function homozygous mutations in PTH1R are incompatible with life as in Blomstrand's lethal chondrodysplasia, characterized by accelerated...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Receptor, Parathyroid Hormone, Type 1

Source

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Identifiers

PMID: 40904804
DOI: 10.3389/fendo.2025.1641292
PMCID: PMC12401709

Genes

PTH1R
PTH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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