KCNJ12

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

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
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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

• Brown atrophy of the heart

C

• Ebb Cade
• Cardiac allograft vasculopathy
• Cardiac amyloidosis
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• Cardiogenic shock
• Cardiogeriatrics
• Cardiorenal syndrome
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D

• Duke Treadmill Score
• Duroziez's disease

E

• Eisenmenger's syndrome
• Embryocardia
• Endocardial fibroelastosis
• Eosinophilic myocarditis

H

• Heart attack
• Heart failure
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• 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

• Keshan disease

L

• Loeffler endocarditis

M

• Mydicar
• Myocardial bridge
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• Myocardial stunning
• Myocarditis

N

• Nonbacterial thrombotic endocarditis

O

• OLR1
• Ostial disease

P

• Papillary fibroelastoma
• Pathophysiology of heart failure
• Postpericardiotomy syndrome
• Pulmonary vein stenosis

R

• Right axis deviation
• Roemheld syndrome

S

• Saturated fat and cardiovascular disease
• SCAR-Fc
• Shone's syndrome
• Strain pattern
• Subacute bacterial endocarditis
• Sudden cardiac death of athletes

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T

• Traumatic cardiac arrest

V

• Ventricular aneurysm
• Vibroacoustic disease
• Viral cardiomyopathy

W

• Waon therapy

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External links

• Comprehensive information from the National Institute of health.
  

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