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The official name of this gene is “hyperpolarization activated cyclic nucleotide gated potassium channel 4.”
HCN4 is the gene's official symbol. The HCN4 gene is also known by other names, listed below.
The HCN4 gene provides instructions for making a channel that transports positively charged atoms (ions) into heart muscle cells. This channel is located primarily in the sino-atrial (SA) node, which is an area of specialized cells in the heart that functions as a natural pacemaker. The HCN4 channel allows potassium and sodium ions to flow into cells of the SA node. This ion flow is often called the "pacemaker current" because it generates electrical impulses that start each heartbeat and is involved in maintaining a regular heart rhythm.
The HCN4 gene belongs to a family of genes called CNG (cyclic nucleotide-regulated channels).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
At least five mutations in the HCN4 gene have been identified in people with sick sinus syndrome, a heart condition that affects the function of the SA node. Most of these mutations change single protein building blocks (amino acids) in the HCN4 channel. In some cases, fewer of the altered channels reach the cell membrane, where they are needed to transport ions. In other cases, the channel is in the right place but has an abnormal structure that changes how ions flow through it. All of the mutations reduce the overall flow of ions into cells of the SA node, preventing it from creating the electrical signals that control the heartbeat. These changes increase the risk of an abnormally slow heartbeat (bradycardia), which can cause dizziness, light-headedness, fainting (syncope), and related symptoms. HCN4 gene mutations have also been found in people who have a slow heartbeat without any other symptoms (asymptomatic bradycardia).
Cytogenetic Location: 15q24.1
Molecular Location on chromosome 15: base pairs 73,319,858 to 73,369,263
The HCN4 gene is located on the long (q) arm of chromosome 15 at position 24.1.
More precisely, the HCN4 gene is located from base pair 73,319,858 to base pair 73,369,263 on chromosome 15.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about HCN4 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
acids ; asymptomatic ; atrial ; bradycardia ; cation ; cell ; cell membrane ; channel ; fainting ; gene ; ions ; muscle cells ; nucleotide ; pacemaker ; potassium ; protein ; SA node ; sinus ; sodium ; syncope ; syndrome
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.