Long QT syndrome type 3 (Q85881): Difference between revisions
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O tipo LQT3 de síndrome do QT longo envolve a mutação do gene que codifica a subunidade alfa do canal de íons Na+. Este gene está localizado no cromossomo 3p21-24 e é conhecido como SCN5A (também hH1 e NaV1.5). As mutações envolvidas no QTL3 retardam a inativação do canal de Na+, resultando no prolongamento do influxo de Na+ durante a despolarização. No entanto, os canais de sódio mutantes ficam inativos mais rapidamente e podem abrir repetidamente durante o potencial de ação. | |||
| description / en | description / en | ||
The LQT3 type of long QT syndrome involves mutation of the gene that encodes the alpha subunit of the Na+ ion channel. This gene is located on chromosome 3p21-24, and is known as SCN5A (also hH1 and NaV1.5). The mutations involved in LQT3 slow the inactivation of the Na+ channel, resulting in prolongation of the Na+ influx during depolarization. However, the mutant sodium channels inactivate more quickly, and may open repetitively during the action potential. | |||
Revision as of 11:14, 15 August 2026
The LQT3 type of long QT syndrome involves mutation of the gene that encodes the alpha subunit of the Na+ ion channel. This gene is located on chromosome 3p21-24, and is known as SCN5A (also hH1 and NaV1.5). The mutations involved in LQT3 slow the inactivation of the Na+ channel, resulting in prolongation of the Na+ influx during depolarization. However, the mutant sodium channels inactivate more quickly, and may open repetitively during the action potential.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1181962223 |
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| English | Long QT syndrome type 3 |
The LQT3 type of long QT syndrome involves mutation of the gene that encodes the alpha subunit of the Na+ ion channel. This gene is located on chromosome 3p21-24, and is known as SCN5A (also hH1 and NaV1.5). The mutations involved in LQT3 slow the inactivation of the Na+ channel, resulting in prolongation of the Na+ influx during depolarization. However, the mutant sodium channels inactivate more quickly, and may open repetitively during the action potential. |
