Free for academic non-profit institutions. Other users need a Commercial license

Aliases for GJA1 Gene

Aliases for GJA1 Gene

  • Gap Junction Protein, Alpha 1, 43kDa 2 3
  • CX43 3 4 6
  • Gap Junction 43 KDa Heart Protein 3 4
  • Connexin 43 2 3
  • Connexin-43 3 4
  • AVSD3 3 6
  • HLHS1 3 6
  • GJAL 3 4
  • CMDR 3 6
  • ODDD 3 6
  • HSS 3 6
  • Gap Junction Protein, Alpha 1, 43kDa (Connexin 43) 2
  • Oculodentodigital Dysplasia (Syndactyly Type III) 2
  • Gap Junction Protein, Alpha-Like 2
  • Gap Junction Alpha-1 Protein 3
  • SDTY3 6
  • ODOD 6

External Ids for GJA1 Gene

Previous HGNC Symbols for GJA1 Gene

  • ODDD
  • GJAL

Previous GeneCards Identifiers for GJA1 Gene

  • GC06P121527
  • GC06P121714
  • GC06P121737
  • GC06P121798
  • GC06P119340
  • GC06P121756

Summaries for GJA1 Gene

Entrez Gene Summary for GJA1 Gene

  • 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. [provided by RefSeq, May 2014]

GeneCards Summary for GJA1 Gene

GJA1 (Gap Junction Protein, Alpha 1, 43kDa) is a Protein Coding gene. Diseases associated with GJA1 include craniometaphyseal dysplasia, autosomal recessive and oculodentodigital dysplasia. Among its related pathways are N-cadherin signaling events and Cytoskeletal Signaling. GO annotations related to this gene include receptor binding and SH3 domain binding. An important paralog of this gene is GJB3.

UniProtKB/Swiss-Prot for GJA1 Gene

  • Gap junction protein that acts as a regulator of bladder capacity. A gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. May play a critical role in the physiology of hearing by participating in the recycling of potassium to the cochlear endolymph. Negative regulator of bladder functional capacity: acts by enhancing intercellular electrical and chemical transmission, thus sensitizing bladder muscles to cholinergic neural stimuli and causing them to contract (By similarity).

Tocris Summary for GJA1 Gene

  • Gap channels (also known as gap junctions) are specalized cell-cell contacts between almost all eukaryotic cells that provide direct intracellular communication. Generally, gap channels allow the passive diffusion of molecules up to 1 kDa which includes nutrients, small metabolites (e.g. glucose), ions (K+, Ca2+) and second messengers (IP3, cAMP and cGMP). Gap channels allow electrical and biochemical coupling between cells and in excitable tissues, such as neurons and the heart, enables the generation of synchronized and rapid responses. Structurally, gap channels are composed of two hemichannels called 'connexons', which themselves are formed from six connexin molecules. Homo- and heteromeric combinations are seen, which exhibit distinct permeability, selectivity and functional properties. Pannexins are related to connexins and can also form gap junctions. However, their expression is limited to the brain. Furthermore, in nonchordate animals a family of proteins called innexins form these channels. Gap channels are regulated through post-translational modifications of the C'-terminal cytoplasmic tail and phosphorylation modulates assembly and their physiological properties. They are continuously synthesized and degraded, allowing tissues to rapidly adapt to changing environmental conditions. Connexins play a key role in many physiological processes including cardiac and smooth muscle contraction, regulation of neuronal excitability, epithelial electrolyte transport and keratinocyte differentiation. Mutations in connexin genes are associated with human diseases including sensorineural deafness, a variety of skin disorders, peripheral neuropathy and cardiovascular disease.

Gene Wiki entry for GJA1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GJA1 Gene

Genomics for GJA1 Gene

Regulatory Elements for GJA1 Gene

Genomic Location for GJA1 Gene

Start:
121,435,599 bp from pter
End:
121,449,727 bp from pter
Size:
14,129 bases
Orientation:
Plus strand

Genomic View for GJA1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GJA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GJA1 Gene

Proteins for GJA1 Gene

  • Protein details for GJA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P17302-CXA1_HUMAN
    Recommended name:
    Gap junction alpha-1 protein
    Protein Accession:
    P17302
    Secondary Accessions:
    • B2R5U9
    • Q6FHU1
    • Q9Y5I8

    Protein attributes for GJA1 Gene

    Size:
    382 amino acids
    Molecular mass:
    43008 Da
    Quaternary structure:
    • A connexon is composed of a hexamer of connexins. Interacts (via C-terminus) with TJP1. Interacts (via C-terminus) with SRC (via SH3 domain). Interacts with UBQLN4 (By similarity). Interacts with SGSM3. Interacts with RIC1/CIP150. Interacts with CNST and CSNK1D.

    Three dimensional structures from OCA and Proteopedia for GJA1 Gene

neXtProt entry for GJA1 Gene

Proteomics data for GJA1 Gene at MOPED

Post-translational modifications for GJA1 Gene

  • Phosphorylated at Ser-368 by PRKCG; phosphorylation induces disassembly of gap junction plaques and inhibition of gap junction activity (By similarity). Phosphorylation at Ser-325, Ser-328 and Ser-330 by CK1 modulates gap junction assembly.
  • S-nitrosylation at Cys-271 is enriched at the muscle endothelial gap junction in arteries, it augments channel permeability and may regulate of smooth muscle cell to endothelial cell communication
  • Sumoylated with SUMO1, SUMO2 and SUMO3, which may regulate the level of functional Cx43 gap junctions at the plasma membrane. May be desumoylated by SENP1 or SENP2.
  • Ubiquitination at Lys9 and Lys303
  • Modification sites at PhosphoSitePlus

Other Protein References for GJA1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for GJA1 (Connexin 43/GJA1)
  • Cell Signaling Technology (CST) Antibodies for GJA1 (GJA1)

No data available for DME Specific Peptides for GJA1 Gene

Domains for GJA1 Gene

Gene Families for GJA1 Gene

HGNC:
  • GJ :Ion channels / Gap junction proteins (connexins)
IUPHAR :

Suggested Antigen Peptide Sequences for GJA1 Gene

Graphical View of Domain Structure for InterPro Entry

P17302

UniProtKB/Swiss-Prot:

CXA1_HUMAN :
  • P17302
Family:
  • Belongs to the connexin family. Alpha-type (group II) subfamily.
genes like me logo Genes that share domains with GJA1: view

Function for GJA1 Gene

Molecular function for GJA1 Gene

GENATLAS Biochemistry: gap junction protein,alpha 1,43kDa,connexin 43),expressed in the heart left ventricule,liver,peripheral nervous system,monomer of the connexon (six subunits),underexpressed in breast cancer cell (marker for detecting early oncogenesis in the breast)
UniProtKB/Swiss-Prot Function: Gap junction protein that acts as a regulator of bladder capacity. A gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. May play a critical role in the physiology of hearing by participating in the recycling of potassium to the cochlear endolymph. Negative regulator of bladder functional capacity: acts by enhancing intercellular electrical and chemical transmission, thus sensitizing bladder muscles to cholinergic neural stimuli and causing them to contract (By similarity).

Gene Ontology (GO) - Molecular Function for GJA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004871 signal transducer activity IMP 12761501
GO:0005102 receptor binding IEA --
GO:0005243 gap junction channel activity IDA 16790700
GO:0005515 protein binding IPI 15709751
GO:0015075 ion transmembrane transporter activity IDA 1696265
genes like me logo Genes that share ontologies with GJA1: view
genes like me logo Genes that share phenotypes with GJA1: view

Animal Models for GJA1 Gene

MGI Knock Outs for GJA1:

Animal Model Products

miRNA for GJA1 Gene

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GJA1

Clone Products

  • Addgene plasmids for GJA1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for GJA1 Gene

Localization for GJA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GJA1 Gene

Cell membrane; Multi-pass membrane protein. Cell junction, gap junction.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GJA1 Gene COMPARTMENTS Subcellular localization image for GJA1 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 4
golgi apparatus 4
cytoskeleton 3
extracellular 3
endosome 2
lysosome 2
mitochondrion 2
nucleus 2
vacuole 2
cytosol 1

Gene Ontology (GO) - Cellular Components for GJA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005737 cytoplasm --
GO:0005741 mitochondrial outer membrane IEA --
GO:0005764 lysosome IEA --
GO:0005768 endosome --
genes like me logo Genes that share ontologies with GJA1: view

Pathways for GJA1 Gene

genes like me logo Genes that share pathways with GJA1: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for GJA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001649 osteoblast differentiation IEA --
GO:0001701 in utero embryonic development IEA --
GO:0001764 neuron migration IEA --
GO:0001937 negative regulation of endothelial cell proliferation IEA --
GO:0001947 heart looping IEA --
genes like me logo Genes that share ontologies with GJA1: view

Compounds for GJA1 Gene

(5) Tocris Compounds for GJA1 Gene

Compound Action Cas Number
10Panx Panx-1 mimetic inhibitory peptide; blocks pannexin-1 gap junctions [955091-53-9]
Carbenoxolone disodium Gap junction blocker. Also inhibitor of 11 beta-hydroxysteroid dehydrogenase [7421-40-1]
Gap 26 Gap junction blocker; inhibits smooth muscle contraction and IP3-mediated ATP release [197250-15-0]
Gap 27 Selective gap junction blocker [198284-64-9]
Scrambled 10Panx Scrambled version of 10Panx (Cat. No. 3348), Panx-1 mimetic inhibitory peptide [1315378-72-3]

(5) ApexBio Compounds for GJA1 Gene

Compound Action Cas Number
10Panx Panx-1 mimetic inhibitory peptide, blocks pannexin-1 gap junctions [955091-53-9]
Gap 26 Gap junction blocker peptide, mapping to connexin 43 residue 63-75 [197250-15-0]
Gap 27 Gap junction blocker peptide [198284-64-9]
GAP-134 Hydrochloride alter conduction pathways and promote cardiac re-entry mechanisms [943134-39-2]
Scrambled 10Panx Panx-1 mimetic inhibitory peptide, blocks pannexin-1 gap junctions [1315378-72-3]

(1) Drugbank Compounds for GJA1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Carvedilol
72956-09-3 target other

(4) IUPHAR Ligand for GJA1 Gene

Ligand Type Action Affinity Pubmed IDs
flufenamic acid Channel blocker None
octanol Inhibitor None
Ca2+ Antagonist Antagonist
carbenoxolone Inhibitor None

(117) Novoseek inferred chemical compound relationships for GJA1 Gene

Compound -log(P) Hits PubMed IDs
oddd 93.1 43
connexin 45 82.7 19
18alpha-glycyrrhetinic acid 82.4 8
heptanol 68.7 1
connexin 42 67.6 2
genes like me logo Genes that share compounds with GJA1: view

Transcripts for GJA1 Gene

mRNA/cDNA for GJA1 Gene

(391) Selected AceView cDNA sequences:
(1) REFSEQ mRNAs :
(14) Additional mRNA sequences :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GJA1 Gene

Gap junction protein, alpha 1, 43kDa:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GJA1

Clone Products

  • Addgene plasmids for GJA1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GJA1 Gene

No ASD Table

Relevant External Links for GJA1 Gene

GeneLoc Exon Structure for
GJA1
ECgene alternative splicing isoforms for
GJA1

Expression for GJA1 Gene

mRNA expression in normal human tissues for GJA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for GJA1 Gene

SOURCE GeneReport for Unigene cluster for GJA1 Gene Hs.74471

mRNA Expression by UniProt/SwissProt for GJA1 Gene

P17302-CXA1_HUMAN
Tissue specificity: Expressed in the heart and fetal cochlea.
genes like me logo Genes that share expressions with GJA1: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for GJA1 Gene

Orthologs for GJA1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GJA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GJA1 35
  • 99.48 (n)
  • 99.74 (a)
GJA1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GJA1 35
  • 92.32 (n)
  • 97.64 (a)
GJA1 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GJA1 35
  • 92.41 (n)
  • 98.17 (a)
GJA1 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gja1 35
  • 88.22 (n)
  • 97.38 (a)
Gja1 16
Gja6 36
  • 63 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GJA1 36
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GJA1 36
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gja1 35
  • 87.96 (n)
  • 97.64 (a)
chicken
(Gallus gallus)
Aves GJA1 35
  • 82.15 (n)
  • 93.7 (a)
GJA1 36
  • 94 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GJA1 36
  • 86 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia gja1-A 35
tropical clawed frog
(Silurana tropicalis)
Amphibia gja1 35
  • 77.92 (n)
  • 87.07 (a)
zebrafish
(Danio rerio)
Actinopterygii cx40.8 36
  • 69 (a)
OneToOne
cx43 35
  • 72.89 (n)
  • 81.05 (a)
Species with no ortholog for GJA1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GJA1 Gene

ENSEMBL:
Gene Tree for GJA1 (if available)
TreeFam:
Gene Tree for GJA1 (if available)

Paralogs for GJA1 Gene

Paralogs for GJA1 Gene

Selected SIMAP similar genes for GJA1 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for GJA1 Gene

genes like me logo Genes that share paralogs with GJA1: view

Variants for GJA1 Gene

Sequence variations from dbSNP and Humsavar for GJA1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs1049349 -- 121,449,496(+) TTTTT(A/T)AAACT utr-variant-3-prime
rs1186433 -- 121,446,116(-) gtttc(A/T)ccatg intron-variant
rs1925223 -- 121,434,673(+) GCAGA(C/G)CCCTG upstream-variant-2KB
rs1925224 -- 121,434,729(+) ATATG(C/T)TCAGC upstream-variant-2KB
rs2071165 -- 121,435,063(+) TGAAA(A/G)ATGGA upstream-variant-2KB

Relevant External Links for GJA1 Gene

HapMap Linkage Disequilibrium report
GJA1
Human Gene Mutation Database (HGMD)
GJA1
Locus Specific Mutation Databases (LSDB)
GJA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for GJA1 Gene

Disorders for GJA1 Gene

(6) OMIM Diseases for GJA1 Gene (121014)

UniProtKB/Swiss-Prot

CXA1_HUMAN
  • Oculodentodigital dysplasia (ODDD) [MIM:164200]: A disease characterized by a typical facial appearance and variable involvement of the eyes, dentition, and fingers. Characteristic facial features include a narrow, pinched nose with hypoplastic alae nasi, prominent columella and thin anteverted nares together with a narrow nasal bridge, and prominent epicanthic folds giving the impression of hypertelorism. The teeth are usually small and carious. Typical eye findings include microphthalmia and microcornea. The characteristic digital malformation is complete syndactyly of the fourth and fifth fingers (syndactyly type III) but the third finger may be involved and associated camptodactyly is a common finding. Cardiac abnormalities are observed in rare instances. {ECO:0000269 PubMed:12457340, ECO:0000269 PubMed:14729836, ECO:0000269 PubMed:15108203, ECO:0000269 PubMed:15637728, ECO:0000269 PubMed:16219735, ECO:0000269 PubMed:16222672, ECO:0000269 PubMed:16378922, ECO:0000269 PubMed:16709485, ECO:0000269 PubMed:16813608, ECO:0000269 PubMed:16816024, ECO:0000269 PubMed:17509830, ECO:0000269 PubMed:18161618, ECO:0000269 PubMed:19338053, ECO:0000269 PubMed:21670345, ECO:0000269 PubMed:23550541, ECO:0000269 PubMed:24508941}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Oculodentodigital dysplasia, autosomal recessive (ODDD-AR) [MIM:257850]: A disease characterized by a typical facial appearance and variable involvement of the eyes, dentition, and fingers. Characteristic facial features include a narrow, pinched nose with hypoplastic alae nasi, prominent columella and thin anteverted nares together with a narrow nasal bridge, and prominent epicanthic folds giving the impression of hypertelorism. The teeth are usually small and carious. Typical eye findings include microphthalmia and microcornea. The characteristic digital malformation is complete syndactyly of the fourth and fifth fingers (syndactyly type III) but the third finger may be involved and associated camptodactyly is a common finding. Cardiac abnormalities are observed in rare instances. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Syndactyly 3 (SDTY3) [MIM:186100]: A form of syndactyly, a congenital anomaly of the hand or foot marked by persistence of the webbing between adjacent digits that are more or less completely attached. In SDTY3, there is usually complete and bilateral syndactyly between the fourth and fifth fingers. Usually it is soft tissue syndactyly but occasionally the distal phalanges are fused. The fifth finger is short with absent or rudimentary middle phalanx. The feet are not affected. {ECO:0000269 PubMed:14729836}. Note=The disease may be caused by mutations affecting the gene represented in this entry.
  • Hypoplastic left heart syndrome 1 (HLHS1) [MIM:241550]: A syndrome due to defective development of the aorta proximal to the entrance of the ductus arteriosus, and hypoplasia of the left ventricle and mitral valve. As a result of the abnormal circulation, the ductus arteriosus and foramen ovale are patent and the right atrium, right ventricle, and pulmonary artery are enlarged. {ECO:0000269 PubMed:11470490}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Hallermann-Streiff syndrome (HSS) [MIM:234100]: A disorder characterized by a typical skull shape (brachycephaly with frontal bossing), hypotrichosis, microphthalmia, cataracts, beaked nose, micrognathia, skin atrophy, dental anomalies and proportionate short stature. Mental retardation is present in a minority of cases. {ECO:0000269 PubMed:14974090}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Atrioventricular septal defect 3 (AVSD3) [MIM:600309]: A congenital heart malformation characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. The complete form involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum; the valve itself is also shared. A less severe form, known as ostium primum atrial septal defect, is characterized by separate atrioventricular valvar orifices despite a common junction. {ECO:0000269 PubMed:11470490}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Craniometaphyseal dysplasia, autosomal recessive (CMDR) [MIM:218400]: An osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve compression, that may finally result in hearing loss and facial palsy. {ECO:0000269 PubMed:23951358}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(94) Novoseek inferred disease relationships for GJA1 Gene

Disease -log(P) Hits PubMed IDs
oculodentodigital dysplasia 93.1 26
oculodentodigital dysplasia syndrome 78.8 2
syndactyly 54.3 2
keratoderma palmoplantar 49.7 2
arrhythmia 48.6 17

Relevant External Links for GJA1

Genetic Association Database (GAD)
GJA1
Human Genome Epidemiology (HuGE) Navigator
GJA1
genes like me logo Genes that share disorders with GJA1: view

Publications for GJA1 Gene

  1. Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness. (PMID: 11741837) Liu X.Z. … Nance W.E. (Hum. Mol. Genet. 2001) 3 4 23 48
  2. Mutations of connexin43 in fetuses with congenital heart malformations. (PMID: 15978203) Chen P. … Chang C. (Chin. Med. J. 2005) 3 4 23 48
  3. Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair. (PMID: 15108203) Kjaer K.W. … Tommerup N. (Am. J. Med. Genet. A 2004) 3 4 23
  4. Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. (PMID: 12457340) Paznekas W.A. … Jabs E.W. (Am. J. Hum. Genet. 2003) 3 4 23
  5. A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype. (PMID: 14974090) Pizzuti A. … Dallapiccola B. (Hum. Mutat. 2004) 3 4 23

Products for GJA1 Gene

  • Addgene plasmids for GJA1

Sources for GJA1 Gene

Back to Top

Content