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Aliases for GJB1 Gene

Aliases for GJB1 Gene

  • Gap Junction Protein Beta 1 2 3 5
  • Gap Junction Protein, Beta 1, 32kDa 2 3
  • GAP Junction 28 KDa Liver Protein 3 4
  • Connexin-32 3 4
  • CX32 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
  • Gap Junction Beta-1 Protein 3
  • Connexin 32 2
  • CMTX1 3
  • CMTX 3

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

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 Neuropathy, X-Linked Dominant, 1 and Dejerine-Sottas Disease. Among its related pathways are Development Slit-Robo signaling and Transport of connexins along the secretory pathway. GO annotations related to this gene include protein homodimerization activity. An important paralog of this gene is GJB2.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for GJB1 Gene

Genomics for GJB1 Gene

Regulatory Elements for GJB1 Gene

Enhancers for GJB1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XG071227 1.2 ENCODE dbSUPER 11 +12.8 12783 1.8 ELF3 TBP FOXA2 MLX ARID4B RAD21 RARA YY1 GATA4 CREM ZMYM3 GJB1 GC0XP071223 GC0XM071249 PIR53282
GH0XG071224 1 ENCODE dbSUPER 8.1 +10.3 10346 2.3 MXI1 SAP130 RARA ZFHX2 ZBTB48 NR2F6 EZH2 GATAD2A MAZ FOXA3 ZMYM3 GJB1 NONO GC0XP071223 GC0XM071249 PIR53282
GH0XG071207 0.7 Ensembl 5 -7.4 -7394 0.4 SMARCE1 SP3 MCM3 YY2 ZSCAN4 ARID1B ZFHX2 JUND EGR1 FOS GJB1 ENSG00000228427
GH0XG071180 0.5 ENCODE 4.7 -34.4 -34449 0.2 ZNF146 ZNF629 HNF4A ZXDB YY1 GJB1 ENSG00000228427 NLGN3
GH0XG071191 0.4 FANTOM5 5.5 -23.8 -23827 0.3 ZBTB40 GJB1 TEX11 ENSG00000228427 NLGN3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GJB1 on UCSC Golden Path with GeneCards custom track

Genomic Location for GJB1 Gene

Chromosome:
X
Start:
71,215,194 bp from pter
End:
71,225,516 bp from pter
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

Other Protein References for GJB1 Gene

No data available for DME Specific Peptides for GJB1 Gene

Domains & Families for GJB1 Gene

Gene Families for GJB1 Gene

Suggested Antigen Peptide Sequences for GJB1 Gene

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

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
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.

Gene Ontology (GO) - Molecular Function for GJB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005243 gap junction channel activity TAS --
GO:0042803 protein homodimerization activity IEA --
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:

Animal Model Products

CRISPR Products

miRNA for GJB1 Gene

miRTarBase miRNAs that target GJB1

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for GJB1
  • Applied Biological Materials Clones for GJB1

No data available for Enzyme Numbers (IUBMB) , 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
endoplasmic reticulum 5
extracellular 2
cytoskeleton 2
golgi apparatus 2
mitochondrion 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for GJB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005886 plasma membrane IEA --
GO:0005921 gap junction IEA --
genes like me logo Genes that share ontologies with GJB1: view

Pathways & Interactions for GJB1 Gene

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

Gene Ontology (GO) - Biological Process for GJB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 2875078
GO:0007154 cell communication IEA --
GO:0007267 cell-cell signaling TAS 8266101
GO:0007399 nervous system development TAS 8266101
GO:0015868 purine ribonucleotide transport IEA --
genes like me logo Genes that share ontologies with GJB1: view

No data available for SIGNOR curated interactions for GJB1 Gene

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
Carbenoxolone Experimental Pharma Inhibitor 0
Flufenamic Acid Experimental Pharma Channel blocker 0
Gap19 Pharma Cx43 hemichannel blocker 0
Ca<sup>2+</sup> Pharma Activator 0
octanol Pharma Inhibitor 0

(5) 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
Gap19 Cx43 hemichannel blocker 1507930-57-5

(3) ApexBio Compounds for GJB1 Gene

Compound Action Cas Number
GAP-134 Gap junction modifier 943134-39-2
GAP-134 Hydrochloride Gap-junction modifier,potent and selective 943133-81-1
Gap19 1507930-57-5
genes like me logo Genes that share compounds with GJB1: view

Drug Products

Transcripts for GJB1 Gene

Unigene Clusters for GJB1 Gene

Gap junction protein, beta 1, 32kDa:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for GJB1
  • Applied Biological Materials Clones 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
ECgene alternative splicing isoforms for
GJB1

Expression for GJB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for GJB1 Gene



NURSA nuclear receptor signaling pathways regulating expression of GJB1 Gene:

GJB1

SOURCE GeneReport for Unigene cluster for GJB1 Gene:

Hs.333303

Evidence on tissue expression from TISSUES for GJB1 Gene

  • Nervous system(4.9)
  • Liver(4.8)
  • Skin(4.7)
  • Kidney(2.7)
  • Pancreas(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
Organs:
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

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 34 35
  • 99.53 (n)
cow
(Bos Taurus)
Mammalia GJB1 34 35
  • 93.64 (n)
oppossum
(Monodelphis domestica)
Mammalia GJB1 35
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gjb1 34
  • 92.82 (n)
dog
(Canis familiaris)
Mammalia GJB1 34 35
  • 92.46 (n)
mouse
(Mus musculus)
Mammalia Gjb1 34 16 35
  • 92.34 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GJB1 35
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves GJB1 34 35
  • 79.21 (n)
lizard
(Anolis carolinensis)
Reptilia GJB1 35
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gjb1 34
  • 71.1 (n)
Str.6225 34
African clawed frog
(Xenopus laevis)
Amphibia gjb1-A-prov 34
zebrafish
(Danio rerio)
Actinopterygii cx27.5 34 35
  • 63 (a)
cx31.7 34 35
  • 62.17 (n)
Species where no ortholog for GJB1 was found in the sources mined by GeneCards:
  • 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 GJB1 Gene

ENSEMBL:
Gene Tree for GJB1 (if available)
TreeFam:
Gene Tree for GJB1 (if available)

Paralogs for GJB1 Gene

Paralogs for GJB1 Gene

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

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

Variants for GJB1 Gene

Sequence variations from dbSNP and Humsavar for GJB1 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs104894810 Pathogenic, Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] 71,224,131(+) TGTTC(C/T)GGCTG reference, missense
rs104894811 Pathogenic, Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] 71,224,221(+) TCTAC(C/T)CCTGC reference, missense
rs104894812 Pathogenic, Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] 71,224,122(+) TCAGC(A/G)TGGTG reference, missense
rs104894813 Pathogenic, Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] 71,224,104(+) TGTGG(C/T)GGACC reference, missense
rs104894817 Pathogenic, Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] 71,223,796(+) CTTCA(A/T)CTTCA reference, missense

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)

Relevant External Links for GJB1 Gene

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

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

Disorders for GJB1 Gene

MalaCards: The human disease database

(47) MalaCards diseases for GJB1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
charcot-marie-tooth neuropathy, x-linked dominant, 1
  • charcot-marie-tooth disease, x-linked dominant, 1
dejerine-sottas disease
  • hypertrophic neuropathy of dejerine-sottas
spinocerebellar ataxia, x-linked 1
  • x-linked progressive cerebellar ataxia
deafness, autosomal recessive 1a
  • deafness, digenic, gjb2/gjb3
charcot-marie-tooth neuropathy x type 1
  • cmtx1
- 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 mutations 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.

Relevant External Links for GJB1

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

No data available for Genatlas for GJB1 Gene

Publications for GJB1 Gene

  1. Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations. (PMID: 19259128) Miltenberger-Miltenyi G. … Janecke A.R. (Eur. J. Hum. Genet. 2009) 3 22 46 64
  2. Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease. (PMID: 18379723) Mandich P. … Bellone E. (J. Hum. Genet. 2008) 3 22 46 64
  3. [Spectrum and frequency of mutations in the connexin 32 gene (GJB1) in hereditary and sensory neuropathy type 1X patients from Bashkortostan]. (PMID: 19062535) Khidiianova I.M. … Khusnutdinova E.K. (Genetika 2008) 3 22 46 64
  4. Mutation scanning the GJB1 gene with high-resolution melting analysis: implications for mutation scanning of genes for Charcot-Marie-Tooth disease. (PMID: 17200131) Kennerson M.L. … Nicholson G.A. (Clin. Chem. 2007) 3 22 46 64
  5. X-linked Charcot-Marie-Tooth disease: phenotypic expression of a novel mutation Ile127Ser in the GJB1 (connexin 32) gene. (PMID: 15468313) Vondracek P. … Fajkusova L. (Muscle Nerve 2005) 3 4 22 64

Products for GJB1 Gene

  • Addgene plasmids for GJB1

Sources for GJB1 Gene

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