דלג לתוכן הראשי

potassium voltage-gated channel subfamily Q member 1

ה KCNQ1 gene belongs to a large family of genes that provide instructions for making potassium channels. These channels, which transport positively charged atoms (ions) of potassium out of cells, play key roles in a cell's ability to generate and transmit electrical signals.

Normal function

ה KCNQ1 gene belongs to a large family of genes that provide instructions for making potassium channels. These channels, which transport positively charged atoms (ions) of potassium out of cells, play key roles in a cell's ability to generate and transmit electrical signals.

The specific function of a potassium channel depends on its protein components and its location in the body. Channels made with KCNQ1 proteins are primarily found in the inner ear and in heart (cardiac) muscle. In the inner ear, these channels help maintain the proper ion balance needed for normal hearing. In the heart, the channels are involved in recharging the cardiac muscle after each heartbeat to maintain a regular rhythm. The KCNQ1 protein is also produced in the kidney, lung, stomach, and intestine.

The KCNQ1 protein interacts with proteins in the KCNE family (such as the KCNE1 protein) to form functional potassium channels. Four alpha subunits made from KCNQ1 proteins form the structure of each channel. One beta subunit, made from a KCNE protein, attaches (binds) to the channel and regulates its activity.

Conditions referring to this gene or chromosome

Other names

ATFB1

IKs producing slow voltage-gated potassium channel alpha subunit KvLQT1

JLNS1

KCNA8

KCNA9

KCNQ1_HUMAN

KQT-like 1

Kv1.9

Kv7.1

KVLQT1

LQT1

potassium channel, voltage gated KQT-like subfamily Q, member 1

potassium voltage-gated channel, KQT-like subfamily, member 1

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המידע בעמוד זה נכתב ונבדק על ידי קלינאים מוסמכים.
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