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Article

CNNM2, encoding a basolateral protein required for renal Mg2+ handling, is mutated in dominant hypomagnesemia.

American journal of human genetics - 11 Mar 2011

Stuiver Marchel, Lainez Sergio, Will Constanze, Terryn Sara, Günzel Dorothee, Debaix Huguette, Sommer Kerstin, Kopplin Kathrin, Thumfart Julia, Kampik Nicole B, Querfeld Uwe, Willnow Thomas E, Němec Vladimír, Wagner Carsten A, Hoenderop Joost G, Devuyst Olivier, Knoers Nine V A M, Bindels René J, Meij Iwan C, Müller Dominik

Abstract excerpt

Familial hypomagnesemia is a rare human disorder caused by renal or intestinal magnesium (Mg(2+)) wasting, which may lead to symptoms of Mg(2+) depletion such as tetany, seizures, and cardiac arrhythmias. Our knowledge of the physiology of Mg(2+) (re)absorption, particularly the luminal uptake of...

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Identifiers

PMID: 21397062
DOI: 10.1016/j.ajhg.2011.02.005
PMCID: PMC3059432

Genes

CNNM2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21397062-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

CNNM2, encoding a basolateral protein required for renal Mg2+ handling, is mutated in dominant hypomagnesemia.PMID 21397062Read ↗

Novel variant in the CNNM2 gene associated with dominant hypomagnesemia.Semantic proximity Read ↗

CNNM2 mutations cause impaired brain development and seizures in patients with hypomagnesemia.Semantic proximity Read ↗

Cyclin M2 (CNNM2) knockout mice show mild hypomagnesaemia and developmental defectsSemantic proximity Read ↗

CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations.Semantic proximity Read ↗

Membrane topology and intracellular processing of cyclin M2 (CNNM2).Semantic proximity Read ↗

Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants.Semantic proximity Read ↗

The emerging roles and therapeutic potential of cyclin M/CorC family of Mg2+ transporters.Semantic proximity Read ↗

Genetic causes of hypomagnesemia, a clinical overview.Semantic proximity Read ↗

A missense mutation in the Kv1.1 voltage-gated potassium channel–encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemiaSemantic proximity Read ↗

Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption.Semantic proximity Read ↗

The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2).Semantic proximity Read ↗

Clinical and genetic approach to renal hypomagnesemia.Semantic proximity Read ↗

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