This gene encodes a member of the gap junction protein family. The gap junction proteins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and... See more...

Aliases for GJB1 Gene

Aliases for GJB1 Gene

  • Gap Junction Protein Beta 1 2 3 5
  • CX32 2 3 4
  • Gap Junction Protein, Beta 1, 32kDa 2 3
  • GAP Junction 28 KDa Liver Protein 3 4
  • Gap Junction Beta-1 Protein 3 4
  • Connexin-32 3 4
  • Gap Junction Protein, Beta 1, 32kDa (Connexin 32, Charcot-Marie-Tooth Neuropathy, X-Linked) 2
  • Gap Junction Protein, Beta 1, 32kD (Connexin 32, Charcot-Marie-Tooth Neuropathy, X-Linked) 2
  • Gap Junction Protein, Beta 1, 32kDa (Connexin 32) 2
  • Charcot-Marie-Tooth Neuropathy, X-Linked 2
  • Connexin 32 2
  • CMTX1 3
  • CMTX 3
  • GJB1 5
  • Cx32 4

External Ids for GJB1 Gene

Previous HGNC Symbols for GJB1 Gene

  • CMTX1
  • CMTX

Previous GeneCards Identifiers for GJB1 Gene

  • GC0XP066608
  • GC0XP067912
  • GC0XP068668
  • GC0XP069301
  • GC0XP070218
  • GC0XP070351
  • GC0XP070435
  • GC0XP064252
  • GC0XP071215

Summaries for GJB1 Gene

Entrez Gene Summary for GJB1 Gene

  • This gene encodes a member of the gap junction protein family. The gap junction proteins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2008]

GeneCards Summary for GJB1 Gene

GJB1 (Gap Junction Protein Beta 1) is a Protein Coding gene. Diseases associated with GJB1 include Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 and Charcot-Marie-Tooth Disease. Among its related pathways are Transport of connexins along the secretory pathway and Development Slit-Robo signaling. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity. An important paralog of this gene is GJB6.

UniProtKB/Swiss-Prot Summary for GJB1 Gene

  • One 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.

Tocris Summary for GJB1 Gene

  • Gap channels (gap junctions) are specialized cell-cell contacts that provide direct intracellular communication. They allow passive diffusion of molecules up to 1 kDa, including nutrients, metabolites (glucose), ions (K+, Ca2+) and second messengers (IP3, cAMP).

Gene Wiki entry for GJB1 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GJB1 Gene

Genomics for GJB1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GJB1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ071213 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 250.7 +3.1 3105 4.2 MXD4 CEBPA ZFP64 HOMEZ FOXA2 SMAD4 SAP130 RXRA MIER3 KMT2B GJB1 NONO TAF1 OGT MED12 P2RY4 ENSG00000229601 PABPN1P1 ARR3 RHOG2P
GH0XJ071223 Promoter 0.4 EPDnew 250.4 +10.4 10394 0.1 RBFOX2 RF00484 GJB1 ZMYM3 RF00017-8507 NONO
GH0XJ071227 Enhancer 1 ENCODE dbSUPER 11 +15.2 15165 1.8 CEBPA KDM6A FOXA2 SMAD4 SAP130 RXRA ZSCAN9 ETV4 RARA ZBTB33 RF00017-8508 ZMYM3 GJB1 SNX12 RTL5 RF00484 RF00017-8507 NONO
GH0XJ071224 Enhancer 0.9 Ensembl ENCODE dbSUPER 8.2 +12.8 12790 2.8 CEBPA SMAD4 SAP130 MIER3 RARA BCL6 HMG20A NR2F6 ELF3 RXRB ZMYM3 GJB1 NONO RF00484 RF00017-8508 RF00017-8507
GH0XJ071191 Enhancer 0.5 FANTOM5 Ensembl 5.5 -21.3 -21310 1.8 ZBTB40 NANOG GJB1 TEX11 ENSG00000228427 LOC107985688 lnc-NLGN3-2 NLGN3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GJB1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GJB1

Top Transcription factor binding sites by QIAGEN in the GJB1 gene promoter:
  • CP1A
  • CP1C
  • FOXL1
  • MRF-2
  • p53
  • SEF-1 (1)

Genomic Locations for GJB1 Gene

Latest Assembly
chrX:71,212,811-71,225,516
(GRCh38/hg38)
Size:
12,706 bases
Orientation:
Plus strand

Previous Assembly
chrX:70,435,089-70,445,366
(GRCh37/hg19 by Entrez Gene)
Size:
10,278 bases
Orientation:
Plus strand

chrX:70,435,044-70,445,366
(GRCh37/hg19 by Ensembl)
Size:
10,323 bases
Orientation:
Plus strand

Genomic View for GJB1 Gene

Genes around GJB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GJB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GJB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GJB1 Gene

Proteins for GJB1 Gene

  • Protein details for GJB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P08034-CXB1_HUMAN
    Recommended name:
    Gap junction beta-1 protein
    Protein Accession:
    P08034
    Secondary Accessions:
    • B2R8R2
    • D3DVV2
    • Q5U0S4

    Protein attributes for GJB1 Gene

    Size:
    283 amino acids
    Molecular mass:
    32025 Da
    Quaternary structure:
    • A connexon is composed of a hexamer of connexins. Interacts with CNST (By similarity).

    Three dimensional structures from OCA and Proteopedia for GJB1 Gene

neXtProt entry for GJB1 Gene

Post-translational modifications for GJB1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibodies for research

No data available for DME Specific Peptides for GJB1 Gene

Domains & Families for GJB1 Gene

Gene Families for GJB1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for GJB1 Gene

InterPro:
Blocks:
  • Connexin, N terminal
  • Gap junction beta-1 protein (Cx32) signature
ProtoNet:

Suggested Antigen Peptide Sequences for GJB1 Gene

GenScript: Design optimal peptide antigens:
  • Gap junction protein (C9JWU8_HUMAN)
  • GAP junction 28 kDa liver protein (CXB1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P08034

UniProtKB/Swiss-Prot:

CXB1_HUMAN :
  • Belongs to the connexin family. Beta-type (group I) subfamily.
Family:
  • Belongs to the connexin family. Beta-type (group I) subfamily.
genes like me logo Genes that share domains with GJB1: view

Function for GJB1 Gene

Molecular function for GJB1 Gene

UniProtKB/Swiss-Prot Function:
One 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.
GENATLAS Biochemistry:
gap junction protein,beta 1,32kDa,expressed in liver,thyroid,peripheral nervous sytem,connexin 32,monomer of the connexon (six subunits including GJA3,GJA8,GJB1,GJB2),phosphorylated by EGFR,involved in the auditory pathway and in interactions axon Schwann cell with defective interaction,potentially inducing axonopathy in CMTX1

Gene Ontology (GO) - Molecular Function for GJB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005243 gap junction channel activity TAS --
GO:0005515 protein binding IPI 32296183
genes like me logo Genes that share ontologies with GJB1: view
genes like me logo Genes that share phenotypes with GJB1: view

Human Phenotype Ontology for GJB1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GJB1 Gene

MGI Knock Outs for GJB1:

miRNA for GJB1 Gene

miRTarBase miRNAs that target GJB1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GJB1

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for GJB1 Gene

Localization for GJB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GJB1 Gene

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

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GJB1 gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
golgi apparatus 2
peroxisome 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for GJB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005886 plasma membrane IEA --
GO:0005921 gap junction IEA --
GO:0005922 connexin complex TAS,IBA 21873635
genes like me logo Genes that share ontologies with GJB1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GJB1 Gene

Pathways & Interactions for GJB1 Gene

genes like me logo Genes that share pathways with GJB1: view

Pathways by source for GJB1 Gene

1 GeneGo (Thomson Reuters) pathway for GJB1 Gene
  • Cell adhesion Gap junctions
1 Qiagen pathway for GJB1 Gene
  • Signaling in Gap Junctions

SIGNOR curated interactions for GJB1 Gene

Is activated by:
Other effect:

Gene Ontology (GO) - Biological Process for GJB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007154 cell communication IEA --
GO:0007267 cell-cell signaling TAS,IBA 21873635
GO:0007399 nervous system development TAS 8266101
GO:0015868 purine ribonucleotide transport IEA --
GO:0016264 gap junction assembly TAS --
genes like me logo Genes that share ontologies with GJB1: view

Drugs & Compounds for GJB1 Gene

(21) Drugs for GJB1 Gene - From: ApexBio, DGIdb, IUPHAR, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Flufenamic acid Approved Pharma Inhibitor Calcium-activated chloride channel blocker; NSAID. Also activates TRPC6 0
Carbenoxolone Experimental Pharma Inhibitor 0
octanol Investigational Pharma Inhibitor 0
Ca<sup>2+</sup> Pharma Inhibitor 0
Gap19 Pharma 0

(4) Additional Compounds for GJB1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(5) Tocris Compounds for GJB1 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

(1) ApexBio Compounds for GJB1 Gene

Compound Action Cas Number
Gap19 1507930-57-5
genes like me logo Genes that share compounds with GJB1: view

Drug products for research

Transcripts for GJB1 Gene

mRNA/cDNA for GJB1 Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GJB1

Alternative Splicing Database (ASD) splice patterns (SP) for GJB1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d
SP1: -
SP2: - -
SP3: - - -
SP4: - -

Relevant External Links for GJB1 Gene

GeneLoc Exon Structure for
GJB1

Expression for GJB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GJB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GJB1 Gene

This gene is overexpressed in Liver (x16.7), Brain - Spinal cord (cervical c-1) (x7.6), Pancreas (x5.8), and Brain - Substantia nigra (x4.5).

Protein differential expression in normal tissues from HIPED for GJB1 Gene

This gene is overexpressed in Liver (37.3), Spinal cord (15.5), and Urine (10.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GJB1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GJB1

SOURCE GeneReport for Unigene cluster for GJB1 Gene:

Hs.333303

Evidence on tissue expression from TISSUES for GJB1 Gene

  • Nervous system(4.9)
  • Skin(4.8)
  • Liver(4.8)
  • Kidney(2.9)
  • Pancreas(2.4)
  • Intestine(2.2)
  • Stomach(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GJB1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • head
  • mouth
  • pharynx
Thorax:
  • esophagus
Abdomen:
  • stomach
Limb:
  • arm
  • digit
  • foot
  • forearm
  • hand
  • lower limb
  • shin
  • thigh
  • toe
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with GJB1: view

Primer products for research

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for GJB1 Gene

Orthologs for GJB1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GJB1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GJB1 30 31
  • 99.53 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GJB1 30 31
  • 93.64 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia GJB1 31
  • 93 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gjb1 30
  • 92.82 (n)
Dog
(Canis familiaris)
Mammalia GJB1 30 31
  • 92.46 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Gjb1 30 17 31
  • 92.34 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia GJB1 31
  • 87 (a)
OneToOne
Chicken
(Gallus gallus)
Aves GJB1 30 31
  • 79.21 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GJB1 31
  • 77 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gjb1 30
  • 71.1 (n)
Str.6225 30
African clawed frog
(Xenopus laevis)
Amphibia gjb1-A-prov 30
Zebrafish
(Danio rerio)
Actinopterygii cx27.5 30 31
  • 63 (a)
OneToMany
cx31.7 30 31
  • 62.17 (n)
OneToMany
Species where no ortholog for GJB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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 GJB1 Gene

ENSEMBL:
Gene Tree for GJB1 (if available)
TreeFam:
Gene Tree for GJB1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GJB1: view image

Paralogs for GJB1 Gene

(15) SIMAP similar genes for GJB1 Gene using alignment to 2 proteins:

  • CXB1_HUMAN
  • C9JWU8_HUMAN
genes like me logo Genes that share paralogs with GJB1: view

Variants for GJB1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GJB1 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
837766 Uncertain Significance: Charcot-Marie-Tooth Neuropathy X 71,224,342(+) T/G
NM_000166.6(GJB1):c.635T>G (p.Leu212Arg)
MISSENSE
838209 Pathogenic: Charcot-Marie-Tooth Neuropathy X 71,224,211(+) C/A
NM_000166.6(GJB1):c.504C>A (p.Cys168Ter)
NONSENSE
840624 Uncertain Significance: Charcot-Marie-Tooth disease; Charcot-Marie-Tooth Neuropathy X 71,224,208(+) G/T
NM_000166.6(GJB1):c.501G>T (p.Lys167Asn)
MISSENSE
841323 Pathogenic: Charcot-Marie-Tooth Neuropathy X 71,223,906(+) C/T
NM_000166.6(GJB1):c.199C>T (p.Gln67Ter)
NONSENSE
843172 Uncertain Significance: Charcot-Marie-Tooth Neuropathy X 71,224,047(+) C/A
NM_000166.6(GJB1):c.340C>A (p.Pro114Thr)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for GJB1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for GJB1 Gene

Variant ID Type Subtype PubMed ID
esv1584074 OTHER inversion 17803354
esv33082 CNV loss 17666407
esv3576924 CNV gain 25503493
nsv508781 CNV insertion 20534489

Variation tolerance for GJB1 Gene

Residual Variation Intolerance Score: 60.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.50; 10.86% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GJB1 Gene

Human Gene Mutation Database (HGMD)
GJB1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GJB1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GJB1 Gene

Disorders for GJB1 Gene

MalaCards: The human disease database

(69) MalaCards diseases for GJB1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search GJB1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CXB1_HUMAN
  • Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]: A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies characterized by severely reduced motor nerve conduction velocities (NCVs) (less than 38m/s) and segmental demyelination and remyelination, and primary peripheral axonal neuropathies characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy. CMTX1 has both demyelinating and axonal features. Central nervous system involvement may occur. {ECO:0000269 PubMed:10071100, ECO:0000269 PubMed:10220155, ECO:0000269 PubMed:10234007, ECO:0000269 PubMed:10586284, ECO:0000269 PubMed:10732813, ECO:0000269 PubMed:10737979, ECO:0000269 PubMed:10873293, ECO:0000269 PubMed:10894999, ECO:0000269 PubMed:10923043, ECO:0000269 PubMed:10938190, ECO:0000269 PubMed:11030070, ECO:0000269 PubMed:11140841, ECO:0000269 PubMed:11180613, ECO:0000269 PubMed:11437164, ECO:0000269 PubMed:11438991, ECO:0000269 PubMed:11562788, ECO:0000269 PubMed:11571214, ECO:0000269 PubMed:11723288, ECO:0000269 PubMed:11835375, ECO:0000269 PubMed:11891346, ECO:0000269 PubMed:12185164, ECO:0000269 PubMed:12207932, ECO:0000269 PubMed:12325071, ECO:0000269 PubMed:12402337, ECO:0000269 PubMed:12477701, ECO:0000269 PubMed:12497641, ECO:0000269 PubMed:12536289, ECO:0000269 PubMed:12707076, ECO:0000269 PubMed:14627639, ECO:0000269 PubMed:15241803, ECO:0000269 PubMed:15468313, ECO:0000269 PubMed:15852376, ECO:0000269 PubMed:27234031, ECO:0000269 PubMed:7477983, ECO:0000269 PubMed:7833935, ECO:0000269 PubMed:8004109, ECO:0000269 PubMed:8162049, ECO:0000269 PubMed:8266101, ECO:0000269 PubMed:8628473, ECO:0000269 PubMed:8698335, ECO:0000269 PubMed:8733054, ECO:0000269 PubMed:8737658, ECO:0000269 PubMed:8807343, ECO:0000269 PubMed:8829637, ECO:0000269 PubMed:8889588, ECO:0000269 PubMed:8956046, ECO:0000269 PubMed:8990008, ECO:0000269 PubMed:9018031, ECO:0000269 PubMed:9099841, ECO:0000269 PubMed:9187667, ECO:0000269 PubMed:9272161, ECO:0000269 PubMed:9361298, ECO:0000269 PubMed:9452025, ECO:0000269 PubMed:9452099, ECO:0000269 PubMed:9469569, ECO:0000269 PubMed:9633821, ECO:0000269 PubMed:9818870, ECO:0000269 PubMed:9856562, ECO:0000269 Ref.12}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Dejerine-Sottas syndrome (DSS) [MIM:145900]: A severe degenerating neuropathy of the demyelinating Charcot-Marie-Tooth disease category, with onset by age 2 years. Characterized by motor and sensory neuropathy with very slow nerve conduction velocities, increased cerebrospinal fluid protein concentrations, hypertrophic nerve changes, delayed age of walking as well as areflexia. There are both autosomal dominant and autosomal recessive forms of Dejerine-Sottas syndrome. {ECO:0000269 PubMed:15947997}. Note=The gene represented in this entry may act as a disease modifier.

Additional Disease Information for GJB1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with GJB1: view

No data available for Genatlas for GJB1 Gene

Publications for GJB1 Gene

  1. Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family. (PMID: 15947997) Chung KW … Choi BO (Neurogenetics 2005) 3 4 23 74
  2. Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients. (PMID: 15241803) Choi BO … Chung KW (Human mutation 2004) 3 4 23 74
  3. Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. (PMID: 11835375) Boerkoel CF … Lupski JR (Annals of neurology 2002) 3 4 23 41
  4. Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations. (PMID: 19259128) Miltenberger-Miltenyi G … Janecke AR (European journal of human genetics : EJHG 2009) 3 23 41
  5. [Spectrum and frequency of mutations in the connexin 32 gene (GJB1) in hereditary and sensory neuropathy type 1X patients from Bashkortostan]. (PMID: 19062535) Khidiianova IM … Khusnutdinova EK (Genetika 2008) 3 23 41

Products for GJB1 Gene

  • Addgene plasmids for GJB1

Sources for GJB1 Gene