SCN5A Summary

The protein encoded by this gene is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. This protein is found primarily in cardiac muscle and is responsible for the initial upstroke of the action potential in an electrocardiogram. Defects in this gene are a cause of long QT syndrome type 3 (LQT3), an autosomal dominant cardiac disease. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

SCN5A Details

Gene Symbol : SCN5A

Gene Name : Sodium voltage-gated channel alpha subunit 5

Chromosome : CHR 3: 386,496,72-385,480,60

Locus : 3p22.2

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ANO10 Summary

The transmembrane protein encoded by this gene belongs to the anoctamin family of calcium-activated chloride channels, also known as the transmembrane 16 family. The encoded protein contains eight transmembrane domains with cytosolic N- and C-termini. Defects in this gene may cause autosomal recessive spinocerebellar ataxia-10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]

ANO10 Details

Gene Symbol : ANO10

Gene Name : Anoctamin 10

Chromosome : CHR 3: 436,915,93-433,663,23

Locus : 3p22.1-p21.33

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