| Symbol
| GJA5
| contributors: mct - updated : 03-07-2015
|
| HGNC name
| gap junction protein, alpha 5, 40kDa
|
| HGNC id
| 4279
|
| corresponding disease(s)
|
ATFB11
|
| Other morbid association(s)
|
| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
|---|
| constitutional
|
|
| --over
|
| |
in ischemic cardiomyopathy | | constitutional
|
| deletion
|
|
| |
1q21.1 contiguous gene deletion (with ACP6 and GJA8)associated with a range of cardiac defects, with particularly anomalies of the aortic arch | | constitutional
| somatic mutation
|
|
|
| |
in idiopathic atrial fibrillation by impairing gap-junction assembly or electrical coupling | | constitutional
|
| amplification
|
|
|
recurring copy-number variants in congenital heart disease  | |
| Susceptibility
|
to atrial cardiomyopathy with heart block (see ATFB1A) to essential hypertension in men to Tetralogy of Fallot |
| Variant & Polymorphism
other
| somatic mutations in atrial cardiomyopathy with heart block |
|
polymorphisms increasing the risk of essential hypertension in men |
|
A96S mutation, the aberrant extravascular localization of renin-secreting cells in the kidney likely impairs the pressure-mediated inhibition of renin secretion, and is associated to essential hypertension |
| 
|
| Candidate gene
| for the CHD phenotypes observed with dup 1q21 |
Marker
Therapy target
|
| | |
|
| deletion of the gap-junction-forming protein GJA5 leads to renin-dependent hypertension in mice | |
sinus node impulse initiation was found to be ectopic in Cx40(-/-) mice at 15.5 days postcoitus |