Details for: GJA1

Gene ID: 2697

Gene Type:  Protein-coding  - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.

Symbol: GJA1

Ensembl ID: ENSG00000152661

Description: gap junction protein alpha 1

Selected Context(s):  Overall

Cell Significance Landscape

Contexts:

Associated with

Significant Cells

Cell Significance Index (CSI) scores for the chosen context(s)

  • keratinocyte CL0000312
    CSI 12.59
    rCSI 10.55%
    PRS 80.75
  • retinal pigment epithelial cell CL0002586
    CSI 11.06
    rCSI 21.96%
    PRS 73.6
  • endothelial cell of placenta CL0009092
    CSI 7.99
    rCSI 39.38%
    PRS 85.65
  • astrocyte of the cerebral cortex CL0002605
    CSI 7.98
    rCSI 17.89%
    PRS 60.22
  • bronchus fibroblast of lung CL2000093
    CSI 7.19
    rCSI 5.84%
    PRS 77.07
  • mesenchymal cell CL0008019
    CSI 7
    rCSI 17.78%
    PRS 71.07
  • ependymal cell CL0000065
    CSI 6.47
    rCSI 13.13%
    PRS 56.02
  • mononuclear phagocyte CL0000113
    CSI 6.18
    rCSI 13.6%
    PRS 81.46
  • interstitial cell of Cajal CL0002088
    CSI 5.93
    rCSI 7.54%
    PRS 82.68
  • basal cell CL0000646
    CSI 5.45
    rCSI 7.29%
    PRS 76.47
  • pulmonary capillary endothelial cell CL4028001
    CSI 5.35
    rCSI 10.21%
    PRS 87.6
  • blood vessel endothelial cell CL0000071
    CSI 5.17
    rCSI 10.73%
    PRS 74.4
  • fallopian tube secretory epithelial cell CL4030006
    CSI 5.03
    rCSI 4.85%
    PRS 76.96
  • mature astrocyte CL0002627
    CSI 5.02
    rCSI 21.34%
    PRS 70.43
  • myofibroblast cell CL0000186
    CSI 4.53
    rCSI 6.27%
    PRS 75.19
  • lung endothelial cell CL1001567
    CSI 4.52
    rCSI 10.54%
    PRS 88.73
  • neural crest cell CL0011012
    CSI 4.39
    rCSI 3.47%
    PRS 65.98
  • skin fibroblast CL0002620
    CSI 4.28
    rCSI 3.69%
    PRS 79.02
  • alveolar adventitial fibroblast CL4028006
    CSI 4.23
    rCSI 6.69%
    PRS 79.38
  • regular ventricular cardiac myocyte CL0002131
    CSI 4.09
    rCSI 25.54%
    PRS 69.38
  • pancreatic ductal cell CL0002079
    CSI 4.03
    rCSI 7.83%
    PRS 80.88
  • cerebral cortex endothelial cell CL1001602
    CSI 3.89
    rCSI 6.72%
    PRS 68.91
  • glioblast CL0000030
    CSI 3.83
    rCSI 6.12%
    PRS 69.42
  • endothelial cell of lymphatic vessel CL0002138
    CSI 3.77
    rCSI 7.47%
    PRS 83.32
  • endocardial cell CL0002350
    CSI 3.73
    rCSI 17.87%
    PRS 74.46
  • vein endothelial cell of respiratory system CL4033008
    CSI 3.73
    rCSI 25.6%
    PRS 84.85
  • fibroblast of lung CL0002553
    CSI 3.62
    rCSI 3.37%
    PRS 78.24
  • basal-myoepithelial cell of mammary gland CL0002324
    CSI 3.54
    rCSI 6.69%
    PRS 88.95
  • stromal cell CL0000499
    CSI 3.46
    rCSI 9.73%
    PRS 72.71
  • epithelial cell of lung CL0000082
    CSI 3.43
    rCSI 2.85%
    PRS 78.28
  • Bergmann glial cell CL0000644
    CSI 3.42
    rCSI 4.68%
    PRS 69.69
  • choroid plexus epithelial cell CL0000706
    CSI 3.42
    rCSI 5.6%
    PRS 67.07
  • myoepithelial cell CL0000185
    CSI 3.25
    rCSI 8.22%
    PRS 83.11
  • corneal epithelial cell CL0000575
    CSI 3.22
    rCSI 9.22%
    PRS 85.03
  • endothelial cell of periportal hepatic sinusoid CL0019021
    CSI 2.97
    rCSI 13.63%
    PRS 82.48
  • stem cell CL0000034
    CSI 2.9
    rCSI 2.8%
    PRS 70.59
  • type EC enteroendocrine cell CL0000577
    CSI 2.77
    rCSI 9.82%
    PRS 82.3
  • retinal blood vessel endothelial cell CL0002585
    CSI 2.68
    rCSI 4.28%
    PRS 81.37
  • vein endothelial cell CL0002543
    CSI 2.45
    rCSI 6.69%
    PRS 86.17
  • epithelial cell of lower respiratory tract CL0002632
    CSI 2.44
    rCSI 1.89%
    PRS 81.22
  • pulmonary artery endothelial cell CL1001568
    CSI 2.39
    rCSI 3.25%
    PRS 86.48
  • extravillous trophoblast CL0008036
    CSI 2.36
    rCSI 2.92%
    PRS 75.48
  • glandular epithelial cell CL0000150
    CSI 2.32
    rCSI 6.11%
    PRS 89.77
  • Schwann cell CL0002573
    CSI 2.21
    rCSI 6.3%
    PRS 73.84
  • smooth muscle cell CL0000192
    CSI 2.19
    rCSI 5.22%
    PRS 74.72
  • vascular leptomeningeal cell CL4023051
    CSI 2.15
    rCSI 3.77%
    PRS 71.1
  • conjunctival epithelial cell CL1000432
    CSI 2.12
    rCSI 3.24%
    PRS 77.97
  • cardiac endothelial cell CL0010008
    CSI 2.04
    rCSI 8.21%
    PRS 77.19
  • tendon cell CL0000388
    CSI 1.97
    rCSI 5.12%
    PRS 85.36
  • odontoblast CL0000060
    CSI 1.95
    rCSI 44.07%
    PRS 88.89
  • cardiac muscle cell CL0000746
    CSI 1.94
    rCSI 2.79%
    PRS 67.47
  • vascular associated smooth muscle cell CL0000359
    CSI 1.94
    rCSI 6.29%
    PRS 75.61
  • prostate gland microvascular endothelial cell CL2000059
    CSI 1.89
    rCSI 45.29%
    PRS 86.76
  • respiratory hillock cell CL4030023
    CSI 1.83
    rCSI 3.27%
    PRS 86.58
  • basal cell of prostate epithelium CL0002341
    CSI 1.68
    rCSI 4.85%
    PRS 84.64
  • placental villous trophoblast CL2000060
    CSI 1.58
    rCSI 2.44%
    PRS 76.72
  • endothelial cell of arteriole CL1000412
    CSI 1.57
    rCSI 8.73%
    PRS 87.35
  • mesodermal cell CL0000222
    CSI 1.56
    rCSI 1.88%
    PRS 75.39
  • keratocyte CL0002363
    CSI 1.49
    rCSI 3.59%
    PRS 81.37
  • ciliated cell CL0000064
    CSI 1.33
    rCSI 2.15%
    PRS 72.82
  • stromal cell of ovary CL0002132
    CSI 1.19
    rCSI 3.27%
    PRS 84.84
  • pulmonary alveolar type 1 cell CL0002062
    CSI 1.16
    rCSI 6.71%
    PRS 74.59
  • endothelial cell of vascular tree CL0002139
    CSI 1.15
    rCSI 6.27%
    PRS 74.27
  • endothelial cell of uterus CL0009095
    CSI 1.14
    rCSI 8.34%
    PRS 86.32
  • regular atrial cardiac myocyte CL0002129
    CSI 1.13
    rCSI 3.63%
    PRS 74.69
  • fibroblast of breast CL4006000
    CSI 1.06
    rCSI 4.47%
    PRS 83.5
  • vasa recta ascending limb cell CL1001131
    CSI 1.03
    rCSI 4.64%
    PRS 85.67
  • chondrocyte CL0000138
    CSI 1.01
    rCSI 1.6%
    PRS 70.49
  • smooth muscle cell of prostate CL1000487
    CSI 0.95
    rCSI 5.6%
    PRS 84.49
  • pancreatic stellate cell CL0002410
    CSI 0.94
    rCSI 5.49%
    PRS 81.93
  • bronchiolar smooth muscle cell CL4033017
    CSI 0.82
    rCSI 12.32%
    PRS 86.76
  • pluripotent stem cell CL0002248
    CSI 0.7
    rCSI 21%
    PRS 89.02
  • hair follicular keratinocyte CL2000092
    CSI 0.69
    rCSI 12%
    PRS 88.65
  • collagen secreting cell CL0000667
    CSI 0.68
    rCSI 3.89%
    PRS 83.78
  • endothelial cell of venule CL1000414
    CSI 0.59
    rCSI 5.25%
    PRS 86.23
  • osteoblast CL0000062
    CSI 0.42
    rCSI 10.4%
    PRS 91.82
  • blood vessel smooth muscle cell CL0019018
    CSI 0.35
    rCSI 2.84%
    PRS 71.52
  • mesenchymal stem cell CL0000134
    CSI 0.29
    rCSI 3.18%
    PRS 83.55
  • epithelial cell of urethra CL1000296
    CSI 0.24
    rCSI 5.97%
    PRS 85.83

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Network Configuration

Explore relationships of the current gene. Select an Interaction Source: 'ONTOLOGY' for shared pathways (GO/Reactome) or 'STRING' for protein-protein interactions. Further refine by selecting context genes and comparing Cell Significance Index (CSI) scores between baseline and target cell types and their specific contexts.

Comma-separated if multiple.
Comma-separated if multiple.
Legend:
  • Query Gene
  • Node Color (Target Cell CSI, relative to current network):
    • Very High
    • High
    • Medium
    • Low
    • Very Low
    • CSI N/A
  • Node Size: Proportional to Target Cell CSI magnitude
  • STRING PPI Edge
  • Shared Pathway Edge (ONTOLOGY)

Loading network (please wait)...

Other Information

This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.

## Summary [GJA1](/details-gene/2697), or Gap Junction Protein Alpha 1, encodes the protein Connexin-43 (Cx43), a primary component of gap junctions. These structures form channels that permit the direct passage of ions and small signaling molecules between adjacent cells, enabling rapid intercellular communication through both electrical and chemical coupling. The gene's expression profile highlights its critical role in tissues requiring high levels of coordinated cellular activity. **Overall**, it is most significantly expressed in barrier-forming cells such as [keratinocytes](/details-cell/CL0000312) and various endothelial cells, as well as in glial cells like [astrocytes](/details-cell/CL0002605) and structural cells like fibroblasts. Clinically, mutations in [GJA1](/details-gene/2697) are associated with several developmental and physiological disorders, including oculodentodigital dysplasia ([164200](https://omim.org/entry/164200)) and non-syndromic deafness ([11741837](https://doi.org/10.1093/hmg/10.25.2945)), underscoring its fundamental importance in tissue development and homeostasis. ## Cellular Roles and Expression Landscape The expression landscape of [GJA1](/details-gene/2697) points to its integral function in establishing and maintaining multicellular communication networks across diverse tissues. The highest significance is observed in [keratinocytes](/details-cell/CL0000312) (CSI: 12.59) and [retinal pigment epithelial cells](/details-cell/CL0002586) (CSI: 11.06), suggesting a crucial role in the integrity and coordinated function of epithelial barriers. Furthermore, [GJA1](/details-gene/2697) shows high significance in multiple cell types of mesenchymal and endothelial origin. This includes [endothelial cell of placenta](/details-cell/CL0009092) (CSI: 7.99), [bronchus fibroblast of lung](/details-cell/CL2000093) (CSI: 7.19), [mesenchymal cell](/details-cell/CL0008019) (CSI: 7.00), and [blood vessel endothelial cells](/details-cell/CL0000071) (CSI: 5.17). This pattern is consistent with its involvement in vascular development and tissue remodeling. In the central nervous system, its high expression in [astrocyte of the cerebral cortex](/details-cell/CL0002605) (CSI: 7.98) and [mature astrocytes](/details-cell/CL0002627) (CSI: 5.02) highlights its well-established role in forming astrocytic syncytia, which are essential for potassium buffering, neurotransmitter recycling, and maintaining the blood-brain barrier. Collectively, the data indicate that [GJA1](/details-gene/2697) is a key workhorse gene in cells that form extensive communicative networks for physiological coordination. ## Pathways and Molecular Function The functional annotations for [GJA1](/details-gene/2697) are highly consistent with its role as a gap junction protein. Its primary molecular functions are described as [Gap junction channel activity](/details-go/GO:0005243) and the formation of the [Connexin complex](/details-go/GO:0005922), facilitating biological processes such as [Cell communication by electrical coupling](/details-go/GO:0010644) and [Cell communication by chemical coupling](/details-go/GO:0010643). Reactome pathway analysis further details the lifecycle of the protein, including its [Oligomerization of connexins into connexons](/details-pathway/R-HSA-190704), [Gap junction assembly](/details-pathway/R-HSA-190861), and [Regulation of gap junction activity](/details-pathway/R-HSA-191650). Beyond its core function, [GJA1](/details-gene/2697) is implicated in a wide range of developmental and regulatory processes. These include [Heart development](/details-go/GO:0007507), [Bone development](/details-go/GO:0060348), and [Blood vessel morphogenesis](/details-go/GO:0048514), aligning with the clinical phenotypes observed in patients with [GJA1](/details-gene/2697) mutations. The gene also participates in signal transduction and growth regulation, as evidenced by its involvement in [Negative regulation of cell growth](/details-go/GO:0030308), a function that may be mediated through its interaction with proteins like CCN3/NOV ([Link](https://doi.org/10.1074/jbc.m404073200), [Link](https://doi.org/10.1074/jbc.m403952200)). This connection suggests that [GJA1](/details-gene/2697) not only provides a physical conduit between cells but also serves as a scaffold in signaling complexes that control proliferation and differentiation. ## Research Directions Based on its expression profile and known functions, [GJA1](/details-gene/2697) presents several avenues for future investigation, particularly concerning its role in tissue dynamics and pathology. **Testable Hypotheses:** 1. Given its top-ranking expression in [keratinocytes](/details-cell/CL0000312), [GJA1](/details-gene/2697)-mediated intercellular communication is likely essential for the collective cell migration required for epidermal wound healing. We hypothesize that targeted disruption of Cx43 function will impair the coordinated movement of the epithelial sheet, leading to delayed wound closure. 2. The high significance of [GJA1](/details-gene/2697) in [astrocytes](/details-cell/CL0002605) suggests a role beyond homeostatic support. We hypothesize that under neuroinflammatory conditions, Cx43 hemichannels open to the extracellular space, contributing to pathology by releasing ATP and glutamate ([GO:0014047](https://www.ebi.ac.uk/QuickGO/term/GO:0014047)), thereby propagating inflammatory signals and excitotoxicity to neighboring neurons and microglia. **Proposed Experiment:** To test the first hypothesis regarding wound healing, an *in vitro* scratch assay using a confluent monolayer of primary human keratinocytes could be performed. Keratinocytes would be transduced with lentiviral vectors encoding either a specific shRNA against [GJA1](/details-gene/2697) or a non-targeting control shRNA. After creating a "wound" by scratching the monolayer, wound closure would be monitored over 48 hours via live-cell imaging. Key metrics would include the rate of gap closure and the velocity and directionality of cells at the wound edge, analyzed using particle image velocimetry (PIV). A significant reduction in closure rate and disorganized, individualistic cell movement in the [GJA1](/details-gene/2697)-knockdown group compared to the control would support the hypothesis. **Therapeutic Potential:** [GJA1](/details-gene/2697) represents a challenging but potentially valuable therapeutic target. Its ubiquitous expression in vital organs means systemic therapies could have significant side effects. However, context-specific modulation is a promising strategy. For instance, in fibrotic diseases or certain cancers where cell-cell communication is dysregulated, compounds that enhance or stabilize gap junction formation could help restore normal tissue homeostasis and suppress abnormal growth. Conversely, in conditions like chronic pain or epilepsy where astrocyte gap junctions may propagate pathological signaling, targeted delivery of specific Cx43 channel blockers could be therapeutically beneficial. The primary challenge remains achieving tissue and cell-type specificity, likely requiring advanced drug delivery systems or highly targeted biologics.

Genular Protein ID: 4245857179

Symbol: CXA1_HUMAN

Name: Gap junction alpha-1 protein

UniProtKB Accession Codes:

P17302 B2R5U9 Q6FHU1 Q9Y5I8

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 2 DrugCentral 1 EMBL 8 EMDB 15 Ensembl 4 ExpressionAtlas 1 GO 92 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 9 KEGG 1 MANE-Select 1 MIM 17 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 7 OrthoDB 1 PANTHER 2 PDB 15 PDBsum 15 PIR 1 PRINTS 2 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 10 RefSeq 1 SIGNOR 1 SMART 2 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TCDB 1 TopDownProteomics 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1696265

Title: Molecular characterization and functional expression of the human cardiac gap junction channel.

PubMed ID: 1696265

DOI: 10.1083/jcb.111.2.589

PubMed ID: 1646158

Title: The human connexin gene family of gap junction proteins: distinct chromosomal locations but similar structures.

PubMed ID: 1646158

DOI: 10.1016/0888-7543(91)90507-b

PubMed ID: 10581143

Title: Sporadic cases of dilated cardiomyopathies associated with atrioventricular conduction defects are not linked to mutation within the connexins 40 and 43 genes.

PubMed ID: 10581143

DOI: 10.1053/euhj.1999.1718

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 14574404

Title: The DNA sequence and analysis of human chromosome 6.

PubMed ID: 14574404

DOI: 10.1038/nature02055

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 9430691

Title: Intercellular calcium signaling via gap junction in connexin-43-transfected cells.

PubMed ID: 9430691

DOI: 10.1074/jbc.273.3.1519

PubMed ID: 15181016

Title: Connexin43 interacts with NOV: a possible mechanism for negative regulation of cell growth in choriocarcinoma cells.

PubMed ID: 15181016

DOI: 10.1074/jbc.m404073200

PubMed ID: 15213231

Title: CCN3 (NOV) interacts with connexin43 in C6 glioma cells: possible mechanism of connexin-mediated growth suppression.

PubMed ID: 15213231

DOI: 10.1074/jbc.m403952200

PubMed ID: 14702389

Title: Phosphorylation of serine 262 in the gap junction protein connexin-43 regulates DNA synthesis in cell-cell contact forming cardiomyocytes.

PubMed ID: 14702389

DOI: 10.1242/jcs.00889

PubMed ID: 10764404

Title: Connexin expression and turnover: implications for cardiac excitability.

PubMed ID: 10764404

DOI: 10.1161/01.res.86.7.723

PubMed ID: 8873667

Title: Failure to detect connexin43 mutations in 38 cases of sporadic and familial heterotaxy.

PubMed ID: 8873667

DOI: 10.1161/01.cir.94.8.1909

PubMed ID: 9155619

Title: Absence of mutations in the regulatory domain of the gap junction protein connexin 43 in patients with visceroatrial heterotaxy.

PubMed ID: 9155619

DOI: 10.1136/hrt.77.4.369

PubMed ID: 9443444

Title: Connexin43 gene mutations and heterotaxy.

PubMed ID: 9443444

DOI: 10.1161/01.cir.97.1.117

PubMed ID: 11741837

Title: Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness.

PubMed ID: 11741837

DOI: 10.1093/hmg/10.25.2945

PubMed ID: 12270943

Title: Casein kinase 1 regulates connexin-43 gap junction assembly.

PubMed ID: 12270943

DOI: 10.1074/jbc.m209427200

PubMed ID: 16112082

Title: Molecular cloning and functional analysis of a novel Cx43 partner protein CIP150.

PubMed ID: 16112082

DOI: 10.1016/j.bbrc.2005.08.019

PubMed ID: 15605363

Title: Cellular sublocalization of Cx43 and the establishment of functional coupling in IMR-32 neuroblastoma cells.

PubMed ID: 15605363

DOI: 10.1002/mc.20072

PubMed ID: 16816024

Title: A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome.

PubMed ID: 16816024

DOI: 10.1136/jmg.2005.037655

PubMed ID: 12457340

Title: Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.

PubMed ID: 12457340

DOI: 10.1086/346090

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 22411987

Title: The gap junction channel protein connexin 43 is covalently modified and regulated by SUMOylation.

PubMed ID: 22411987

DOI: 10.1074/jbc.m111.281832

PubMed ID: 25168385

Title: Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome.

PubMed ID: 25168385

DOI: 10.1093/hmg/ddu442

PubMed ID: 25398053

Title: Dominant de novo mutations in GJA1 cause erythrokeratodermia variabilis et progressiva, without features of oculodentodigital dysplasia.

PubMed ID: 25398053

DOI: 10.1038/jid.2014.485

PubMed ID: 7715640

Title: Mutations of the connexin43 gap-junction gene in patients with heart malformations and defects of laterality.

PubMed ID: 7715640

DOI: 10.1056/nejm199505183322002

PubMed ID: 11470490

Title: Identification of connexin43 (alpha1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE).

PubMed ID: 11470490

DOI: 10.1016/s0027-5107(01)00160-9

PubMed ID: 15108203

Title: Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair.

PubMed ID: 15108203

DOI: 10.1002/ajmg.a.20614

PubMed ID: 14974090

Title: A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype.

PubMed ID: 14974090

DOI: 10.1002/humu.9220

PubMed ID: 14729836

Title: Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly.

PubMed ID: 14729836

DOI: 10.1136/jmg.2003.012005

PubMed ID: 15637728

Title: A novel GJA1 mutation causes oculodentodigital dysplasia without syndactyly.

PubMed ID: 15637728

DOI: 10.1002/ajmg.a.30554

PubMed ID: 16222672

Title: Letter to the editor: Novel GJA1 mutation in oculodentodigital dysplasia.

PubMed ID: 16222672

DOI: 10.1002/ajmg.a.30925

PubMed ID: 16219735

Title: A novel mutation in the GJA1 gene in a family with oculodentodigital dysplasia.

PubMed ID: 16219735

DOI: 10.1001/archopht.123.10.1422

PubMed ID: 15978203

Title: Mutations of connexin43 in fetuses with congenital heart malformations.

PubMed ID: 15978203

PubMed ID: 15757815

Title: Bigenic connexin mutations in a patient with hidrotic ectodermal dysplasia.

PubMed ID: 15757815

PubMed ID: 16378922

Title: Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD).

PubMed ID: 16378922

DOI: 10.1016/j.ejmg.2005.05.003

PubMed ID: 16813608

Title: Clinical and genetic variability of oculodentodigital dysplasia.

PubMed ID: 16813608

DOI: 10.1111/j.1399-0004.2006.00631.x

PubMed ID: 16709485

Title: A novel GJA 1 mutation in oculo-dento-digital dysplasia with curly hair and hyperkeratosis.

PubMed ID: 16709485

PubMed ID: 17509830

Title: Oculodentodigital dysplasia with mandibular retrognathism and absence of syndactyly: a case report with a novel mutation in the connexin 43 gene.

PubMed ID: 17509830

DOI: 10.1016/j.ijom.2007.03.004

PubMed ID: 18161618

Title: A new GJA1 (connexin 43) mutation causing oculodentodigital dysplasia associated to uncommon features.

PubMed ID: 18161618

DOI: 10.1080/13816810701538620

PubMed ID: 19338053

Title: GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype.

PubMed ID: 19338053

DOI: 10.1002/humu.20958

PubMed ID: 21670345

Title: Oculodentodigital dysplasia: new ocular findings and a novel connexin 43 mutation.

PubMed ID: 21670345

DOI: 10.1001/archophthalmol.2011.113

PubMed ID: 23550541

Title: A novel mutation in GJA1 causing oculodentodigital syndrome and primary lymphoedema in a three generation family.

PubMed ID: 23550541

DOI: 10.1111/cge.12158

PubMed ID: 23951358

Title: A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia.

PubMed ID: 23951358

DOI: 10.1371/journal.pone.0073576

PubMed ID: 24508941

Title: Three novel GJA1 missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) - further extension of the mutational spectrum.

PubMed ID: 24508941

DOI: 10.1016/j.gene.2014.01.066

PubMed ID: 28258662

Title: A novel GJA1 mutation in oculodentodigitaldysplasia with extensive loss of enamel.

PubMed ID: 28258662

DOI: 10.1111/odi.12663

Sequence Information:

  • Length: 382
  • Mass: 43008
  • Checksum: 7DDDAD8040284176
  • Sequence:
    • MGDWSALGKL LDKVQAYSTA GGKVWLSVLF IFRILLLGTA VESAWGDEQS AFRCNTQQPG 
CENVCYDKSF PISHVRFWVL QIIFVSVPTL LYLAHVFYVM RKEEKLNKKE EELKVAQTDG 
VNVDMHLKQI EIKKFKYGIE EHGKVKMRGG LLRTYIISIL FKSIFEVAFL LIQWYIYGFS 
LSAVYTCKRD PCPHQVDCFL SRPTEKTIFI IFMLVVSLVS LALNIIELFY VFFKGVKDRV 
KGKSDPYHAT SGALSPAKDC GSQKYAYFNG CSSPTAPLSP MSPPGYKLVT GDRNNSSCRN 
YNKQASEQNW ANYSAEQNRM GQAGSTISNS HAQPFDFPDD NQNSKKLAAG HELQPLAIVD 
QRPSSRASSR ASSRPRPDDL EI