KCNE1

KCNE1 is a gene that provides instructions for making a protein that plays a critical role in the body's cells. The KCNE1 protein is a subunit of potassium channels, which transport potassium ions across cell membranes. This transport is essential for maintaining the normal functions of cells, particularly muscle cells in the heart.

Function

The KCNE1 gene provides instructions for making a protein that is a subunit of potassium channels. These channels, which transport potassium ions across cell membranes, are essential for maintaining the normal functions of cells. The KCNE1 protein helps regulate the activity of a specific potassium channel known as KvLQT1. This channel is particularly important in heart muscle cells, where it helps recharge the cells after each heartbeat to prepare for the next.

Clinical significance

Mutations in the KCNE1 gene have been associated with several heart conditions. These include Long QT syndrome (LQTS), a disorder that can cause heart palpitations, fainting, and sudden death. Other conditions associated with KCNE1 mutations include Jervell and Lange-Nielsen syndrome and Romano-Ward syndrome.

Genetics

The KCNE1 gene is located on the short (p) arm of chromosome 21 at position 22.11. This gene is inherited in an autosomal dominant manner, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

See also

• Potassium channel
• Long QT syndrome
• Jervell and Lange-Nielsen syndrome
• Romano-Ward syndrome

External links

• KCNE1 at NCBI
• KCNE1 at Genetics Home Reference

KCNE1 Resources
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