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Symbol GJA1 contributors: shn - updated : 23-09-2016
HGNC name gap junction protein, alpha 1, 43kDa
HGNC id 4274
corresponding disease(s) DFNB34 , ODDD , HLHS1 , SDTY3 , CMDR , AVSD3 , EKVP3
related resource Hereditary Hearing Loss Homepage
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral     --low  
in breast cancer cell (marker for detecting early oncogenesis in the breast)
constitutional     --low  
in congestive heart failure (contributing to contractile dysfunction)
in the heart results in sudden arrhythmic death due to increased gap junctional resistance and slowed conduction velocity, which form a substrate for re-entrant arrhythmias
constitutional     --low  
in azoospermic men decreased expression of EGFR may be responsible for decreasing GJA1 levels and increasing its cytosolic localization via the PI3K/AKT signaling pathway
Susceptibility to Atrial Fibrillation (AF)
Variant & Polymorphism SNP GJA1 variant rs13216675 associated with AF
Candidate gene
Therapy target
target for research into the treatment of various eye diseases due to RPE dysfunction
  • CX43 mutant embryos died at birth as a result of a failure in pulmonary gas exchange caused by a swelling and blockage of the right ventricular outflow tract from the hear
  • mice homozygous for CX43 exhibit an abnormal cardiac morphogenetic process
  • lack of expression of CX43 during embryogenesis compromising terminal stages of primary T and B cells differentiation
  • Blood pressure and heart rate measurements were significantly lower in the Cx43 knockout mice
  • mice lacking the C-terminal region of connexin-43 died shortly after birth. Female mice lacking the C-terminal region of connexin-43 are infertile due to impaired folliculogenesis
  • mouse model of ODDD (heterozygous for the human I130T mutation) showed a reduced Cx43 expression in hearts with preferential loss of phosphorylated forms, resulting in interference with trafficking and with assembly of gap junctions in the junctional membrane
  • adult Sertoli cell-specific Cx43 knockout (SC-Cx43 KO) mice displayed spermatogenic arrest at the spermatogonial level