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FLASH GENE

Symbol

GJA1

contributors: shn - updated : 23-09-2016

HGNC name	gap junction protein, alpha 1, 43kDa
HGNC id	4274

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

DFNB34 , ODDD , HLHS1 , SDTY3 , CMDR , AVSD3 , EKVP3

related resource

Hereditary Hearing Loss Homepage

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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) constitutional         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
Marker
Therapy target
	System Type Disorder Pubmed neurosensorial     target for research into the treatment of various eye diseases due to RPE dysfunction

ANIMAL & CELL MODELS

	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