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Article

Splice-variant-specific effects of primary aldosteronism point mutations on human CaV3.2 calcium channels.

Cell calcium - 1 Dec 2019

He Min, Xu Zilan, Zhang Yuchen, Hu Changlong

Abstract excerpt

CaV3.2 calcium channels play important roles in both neural excitability and aldosterone secretion. Recent clinical studies found four germline mutations (S196 L, M1549I, V1951E and P2083 L) in CaV3.2 channels. All four mutations caused primary aldosteronism (PA), while only the M1549I mutation resulted in obvious neural malfunctions besides PA. In human, there are two major CaV3.2 channel gene (CACNA1H) splice...

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Identifiers

PMID: 31706065
DOI: 10.1016/j.ceca.2019.102104

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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