KCNJ12: Difference between revisions
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Latest revision as of 16:15, 17 March 2025
KCNJ12 is a gene that encodes the protein Kir2.2, a member of the inward-rectifier potassium ion channel family. This protein plays a crucial role in maintaining the resting membrane potential and the regulation of the action potentials in neurons and muscle cells.
Function
The KCNJ12 gene provides instructions for making a protein that forms a channel, which allows potassium ions to flow into cells. This flow of ions is critical for maintaining the normal function of muscle cells, including those in the heart. The protein produced from the KCNJ12 gene is found in the cell membrane and is particularly abundant in the heart and brain.
Clinical significance
Mutations in the KCNJ12 gene have been associated with certain types of cardiac arrhythmias, including Andersen-Tawil Syndrome and Short QT Syndrome. These conditions can cause life-threatening irregular heartbeats, fainting spells, and even sudden death.
Research
Research is ongoing to better understand the role of the KCNJ12 gene and its associated protein in health and disease. This includes studies to identify additional mutations that may cause cardiac arrhythmias and to develop new treatments for these conditions.
See also
- Inward-rectifier potassium ion channels
- Resting membrane potential
- Action potential
- Potassium
- Muscle cells
- Cell membrane
- Cardiac arrhythmia
- Andersen-Tawil syndrome
- Short QT syndrome
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This human genetics related article is a stub.
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Cardiovascular disease A-Z
Most common cardiac diseases
- Cardiac arrhythmia
- Cardiogenetic disorders
- Cardiomegaly
- Cardiomyopathy
- Cardiopulmonary resuscitation
- Chronic rheumatic heart diseases
- Congenital heart defects
- Heart neoplasia
- Ischemic heart diseases
- Pericardial disorders
- Syndromes affecting the heart
- Valvular heart disease
A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z
A
- Accelerated idioventricular rhythm
- Acute decompensated heart failure
- Arteriosclerotic heart disease
- Athletic heart syndrome
- Atrial flutter
- Atrioventricular fistula
- Cardiovascular disease in Australia
- Autoimmune heart disease
B
C
- Ebb Cade
- Cardiac allograft vasculopathy
- Cardiac amyloidosis
- Cardiac asthma
- Cardiac tamponade
- Cardiogenic shock
- Cardiogeriatrics
- Cardiorenal syndrome
- Cardiotoxicity
- Carditis
- Coronary artery aneurysm
- Coronary artery anomaly
- Coronary artery disease
- Spontaneous coronary artery dissection
- Coronary artery ectasia
- Coronary occlusion
- Coronary steal
- Coronary thrombosis
- Coronary vasospasm
- Cœur en sabot
- Coxsackievirus-induced cardiomyopathy
D
E
H
- Heart attack
- Heart failure
- Heart failure with preserved ejection fraction
- Heart to Heart (1949 film)
- High-output heart failure
- Hyperdynamic precordium
A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z
I
- Idiopathic giant-cell myocarditis
- Interventricular dyssynchrony
- Intraventricular dyssynchrony
- Isolated atrial amyloidosis
K
L
M
- Mydicar
- Myocardial bridge
- Myocardial disarray
- Myocardial rupture
- Myocardial scarring
- Myocardial stunning
- Myocarditis
N
O
P
- Papillary fibroelastoma
- Pathophysiology of heart failure
- Postpericardiotomy syndrome
- Pulmonary vein stenosis
R
S
- Saturated fat and cardiovascular disease
- SCAR-Fc
- Shone's syndrome
- Strain pattern
- Subacute bacterial endocarditis
- Sudden cardiac death of athletes
A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z
T
V
W
WikiMD neurology
External links
- Comprehensive information from the National Institute of health.
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