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Updated: Feb 27, 2026
11:32
Determination of the Relative Cell Surface and Total Expression of Recombinant Ion Channels Using Flow Cytometry
Published on: September 28, 2016
13.9K
Relevance of tissue specific subunit expression in channelopathies
Hartwig Seitter1, Alexandra Koschak1
1University of Innsbruck, Institute of Pharmacy, Pharmacology and Toxicology, Center for Chemistry and Biomedicine, Innrain 80-82/III, 6020 Innsbruck, Austria.
Neuropharmacology
|July 4, 2017
Summary
This review identifies 85 tissue-enriched ion channel genes, primarily in the brain, testis, and muscle. It further explores voltage-gated calcium channel gene distribution and L-type calcium channelopathies.
Area of Science:
- Genetics
- Molecular Biology
- Human Physiology
Background:
- Channelopathies are disorders caused by ion channel gene mutations.
- These affect various tissues, including the brain, heart, and muscles.
- Understanding tissue-specific ion channel expression is crucial.
Purpose of the Study:
- To identify tissue-selectively expressed ion channel genes.
- To investigate the distribution of voltage-gated calcium channel (VGCC) genes.
- To review L-type calcium channel (LTCC) function, pathology, and treatment.
Main Methods:
- Mining the Human Protein Atlas (HPA) database for tissue-enriched ion channel genes.
- Analyzing FANTOM5 gene expression data for VGCC distribution in brain and retina.
- Compiling information on LTCC function, dysfunction, and splice variants.
Main Results:
- Identified 85 tissue-enriched ion channel genes, predominantly in brain, testis, and muscle.
- Detailed the tissue distribution of VGCC genes across brain regions and the retina.
- Provided an overview of LTCCs, including their splice variants and tissue-specific roles.
Conclusions:
- Ion channel gene expression is highly tissue-specific.
- VGCCs and LTCCs play critical roles in various tissues.
- Understanding tissue-restricted channelopathies is key for developing targeted treatments.
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