LQT4
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Long QT Syndrome Microchapters |
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Diagnosis |
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Treatment |
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Case Studies |
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LQT4 On the Web |
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American Roentgen Ray Society Images of LQT4 |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [2]
Overview
The LTQ4 subtype of long QT syndrome is caused by a mutation in the genes which code for proteins cause ankyrins. Ankyrins are important proteins that bind to various types of vital cell membrane channels which regulate the concentration of intracellular electrolytes. Abnormalities in the channels as a result of defective ankyrin proteins can lead to dangerous levels of intracellular calcium, and fatal arrhythmias.
LQT4 Subtype
| Type | OMIM | Mutation | Notes |
| LQT4 | 600919 | anchor protein Ankyrin B | LQT4 is very rare. Ankyrin B anchors the ion channels in the cell. |
The LQT4 genes are ANK2 and ANKB, and code for proteins called ankyrins. They are proteins which bind to several important ion channel proteins such as the chloride-bicarbonate anion exchanger, ATPase, calcium release channels, and the voltage gated sodium channel. A mutation in the LTQ4 genes that code for ankyrins can cause increased intracellular concentrations of calcium, and can therefore cause fatal arrhythmias.