Gene: GJA1

Alternate names for this Gene: AVSD3|CMDR|CX43|EKVP|EKVP3|GJAL|HLHS1|HSS|ODDD|PPKCA

Gene Summary: This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. The encoded protein is the major protein of gap junctions in the heart that are thought to have a crucial role in the synchronized contraction of the heart and in embryonic development. A related intronless pseudogene has been mapped to chromosome 5. Mutations in this gene have been associated with oculodentodigital dysplasia, autosomal recessive craniometaphyseal dysplasia and heart malformations.

Gene is located in Chromosome: 6

Location in Chromosome : 6q22.31

Description of this Gene: gap junction protein alpha 1

Type of Gene: protein-coding

rs104893965 in GJA1 gene and ATRIOVENTRICULAR SEPTAL DEFECT 3 PMID 11470490 2001 Identification of connexin43 (alpha1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE).

rs764670582 in GJA1 gene and Craniometaphyseal dysplasia, autosomal recessive type PMID 23951358 2013 A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia.

rs1554200990 in GJA1 gene and Dysmorphic features PMID 28106320 2017 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications.

PMID 24133447 2013 Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system?

PMID 27241686 2016 A novel GJA1 mutation identified by whole exome sequencing in a Chinese family with autosomal dominant syndactyly.

PMID 19615768 2010 Mutation analysis of Connexon43 gene in Chinese patients with congenital heart defects.

PMID 19338053 2009 GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype.

PMID 23675785 2014 Overview of skin diseases linked to connexin gene mutations.

PMID 16816024 2006 A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome.

PMID 12457340 2003 Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.

PMID 25976645 2015 A novel truncation mutation in GJA1 associated with open angle glaucoma and microcornea in a large Chinese family.

PMID 27226478 2016 Specific functional pathologies of Cx43 mutations associated with oculodentodigital dysplasia.

PMID 16531323 2007 Functional characterization of oculodentodigital dysplasia-associated Cx43 mutants.

PMID 14974090 2004 A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype.

rs104893965 in GJA1 gene and HYPOPLASTIC LEFT HEART SYNDROME 1 PMID 11470490 2001 Identification of connexin43 (alpha1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE).

rs267606844 in GJA1 gene and Hallermann's Syndrome PMID 14974090 2004 A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype.

rs1554200990 in GJA1 gene and Movement Disorders PMID 16531323 2007 Functional characterization of oculodentodigital dysplasia-associated Cx43 mutants.

PMID 19338053 2009 GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype.

PMID 19615768 2010 Mutation analysis of Connexon43 gene in Chinese patients with congenital heart defects.

PMID 14974090 2004 A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype.

PMID 12457340 2003 Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.

PMID 23675785 2014 Overview of skin diseases linked to connexin gene mutations.

PMID 28106320 2017 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications.

PMID 24133447 2013 Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system?

PMID 16816024 2006 A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome.

PMID 27241686 2016 A novel GJA1 mutation identified by whole exome sequencing in a Chinese family with autosomal dominant syndactyly.

PMID 27226478 2016 Specific functional pathologies of Cx43 mutations associated with oculodentodigital dysplasia.

PMID 25976645 2015 A novel truncation mutation in GJA1 associated with open angle glaucoma and microcornea in a large Chinese family.

rs1554200990 in GJA1 gene and Multiple congenital anomalies PMID 16531323 2007 Functional characterization of oculodentodigital dysplasia-associated Cx43 mutants.

PMID 24133447 2013 Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system?

PMID 23675785 2014 Overview of skin diseases linked to connexin gene mutations.

PMID 28106320 2017 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications.

PMID 19338053 2009 GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype.

PMID 16816024 2006 A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome.

PMID 27226478 2016 Specific functional pathologies of Cx43 mutations associated with oculodentodigital dysplasia.

PMID 25976645 2015 A novel truncation mutation in GJA1 associated with open angle glaucoma and microcornea in a large Chinese family.

PMID 12457340 2003 Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.

PMID 14974090 2004 A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype.

PMID 19615768 2010 Mutation analysis of Connexon43 gene in Chinese patients with congenital heart defects.

PMID 27241686 2016 A novel GJA1 mutation identified by whole exome sequencing in a Chinese family with autosomal dominant syndactyly.

rs1554200990 in GJA1 gene and Muscle hypotonia PMID 14974090 2004 A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype.

PMID 19615768 2010 Mutation analysis of Connexon43 gene in Chinese patients with congenital heart defects.

PMID 16531323 2007 Functional characterization of oculodentodigital dysplasia-associated Cx43 mutants.

PMID 16816024 2006 A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome.

PMID 19338053 2009 GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype.

PMID 23675785 2014 Overview of skin diseases linked to connexin gene mutations.

PMID 28106320 2017 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications.

PMID 25976645 2015 A novel truncation mutation in GJA1 associated with open angle glaucoma and microcornea in a large Chinese family.

PMID 24133447 2013 Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system?

PMID 12457340 2003 Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.

PMID 27241686 2016 A novel GJA1 mutation identified by whole exome sequencing in a Chinese family with autosomal dominant syndactyly.

PMID 27226478 2016 Specific functional pathologies of Cx43 mutations associated with oculodentodigital dysplasia.

rs104893961 in GJA1 gene and Oculo-dento-digital syndrome PMID 16816024 2006 A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome.

rs1554201018 in GJA1 gene and Oculodentodigital Dysplasia, Autosomal Recessive PMID 27226478 2016 Specific functional pathologies of Cx43 mutations associated with oculodentodigital dysplasia.

PMID 25388818 2014 Palmoplantar keratosis in oculodentodigital dysplasia with a GJA1 point mutation out of the C-terminal region of connexin 43.

PMID 18003637 2008 The conditional connexin43G138R mouse mutant represents a new model of hereditary oculodentodigital dysplasia in humans.

PMID 17901047 2007 Identification of the calmodulin binding domain of connexin 43.

PMID 19338053 2009 GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype.

PMID 18946008 2008 Novel mutations in GJA1 cause oculodentodigital syndrome.

rs864309644 in GJA1 gene and PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1 PMID 25168385 2015 By performing whole-exome sequencing in a family with KHLS, we identified a heterozygous mutation (c.23G>T [p.Gly8Val]) in GJA1, which cosegregated with the phenotype in the family.

rs3792943 in GJA1 gene and RESTING HEART RATE PMID 27798624 2016 Identification of genomic loci associated with resting heart rate and shared genetic predictors with all-cause mortality.

rs57347370 in GJA1 gene and Respiratory Tract Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs28931600 in GJA1 gene and SYNDACTYLY, TYPE III PMID 14729836 2004 Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly.