Details for: GJB1

Gene ID: 2705

Symbol: GJB1

Ensembl ID: ENSG00000169562

Description: gap junction protein beta 1

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 1.69
    Marker Score: 4165
  • Cell Name: stem cell (CL0000034)
    Fold Change: 1.57
    Marker Score: 3723
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 1.45
    Marker Score: 6942
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.36
    Marker Score: 863
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 1.33
    Marker Score: 4343
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 1.14
    Marker Score: 3569
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 1.11
    Marker Score: 2344
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 1.06
    Marker Score: 1105
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 1.06
    Marker Score: 2546
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.04
    Marker Score: 4469
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: 1.03
    Marker Score: 1427
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 1.03
    Marker Score: 388
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71810
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48033
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30406
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.98
    Marker Score: 505
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.97
    Marker Score: 459
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 0.95
    Marker Score: 1462
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2411
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.95
    Marker Score: 5741
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5349
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2734
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9
    Marker Score: 323
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.85
    Marker Score: 649
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.84
    Marker Score: 559
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 0.82
    Marker Score: 5219
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 0.81
    Marker Score: 196
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 0.8
    Marker Score: 1823
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1268
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.78
    Marker Score: 1770
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.78
    Marker Score: 311
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 394
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.74
    Marker Score: 1406
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.73
    Marker Score: 4722
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.73
    Marker Score: 667
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.73
    Marker Score: 467
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.72
    Marker Score: 169
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.72
    Marker Score: 714.5
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.72
    Marker Score: 4241
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.71
    Marker Score: 3822
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 177
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.68
    Marker Score: 2858
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.68
    Marker Score: 1380
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.67
    Marker Score: 1581
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 0.66
    Marker Score: 469
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.62
    Marker Score: 282
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.61
    Marker Score: 400
  • Cell Name: paneth cell (CL0000510)
    Fold Change: 0.58
    Marker Score: 406
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.57
    Marker Score: 2040
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.57
    Marker Score: 911
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.55
    Marker Score: 147
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 441
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.52
    Marker Score: 8193
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.52
    Marker Score: 948
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 0.52
    Marker Score: 495
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.51
    Marker Score: 236
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.51
    Marker Score: 346.5
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.5
    Marker Score: 210
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.49
    Marker Score: 142
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.49
    Marker Score: 472
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.49
    Marker Score: 292
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.47
    Marker Score: 175
  • Cell Name: glandular cell of esophagus (CL0002657)
    Fold Change: 0.46
    Marker Score: 147
  • Cell Name: epithelial cell of exocrine pancreas (CL1001433)
    Fold Change: 0.44
    Marker Score: 246
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: 0.42
    Marker Score: 217
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 0.42
    Marker Score: 761
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.41
    Marker Score: 102
  • Cell Name: progenitor cell of endocrine pancreas (CL0002351)
    Fold Change: 0.4
    Marker Score: 88
  • Cell Name: peptic cell (CL0000155)
    Fold Change: 0.4
    Marker Score: 168
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 0.39
    Marker Score: 420
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.39
    Marker Score: 219
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.38
    Marker Score: 156.5
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.37
    Marker Score: 214
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.37
    Marker Score: 370
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.37
    Marker Score: 193
  • Cell Name: M cell of gut (CL0000682)
    Fold Change: 0.37
    Marker Score: 95
  • Cell Name: enteroendocrine cell (CL0000164)
    Fold Change: 0.36
    Marker Score: 187
  • Cell Name: tracheobronchial goblet cell (CL0019003)
    Fold Change: 0.35
    Marker Score: 95
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.34
    Marker Score: 349
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.32
    Marker Score: 871
  • Cell Name: intestinal crypt stem cell of large intestine (CL0009016)
    Fold Change: 0.32
    Marker Score: 95
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.32
    Marker Score: 341
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.31
    Marker Score: 10826
  • Cell Name: epithelial cell of lung (CL0000082)
    Fold Change: 0.31
    Marker Score: 1632
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.31
    Marker Score: 783
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.3
    Marker Score: 319
  • Cell Name: serous secreting cell (CL0000313)
    Fold Change: 0.3
    Marker Score: 119.5
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 0.3
    Marker Score: 147.5
  • Cell Name: type I enteroendocrine cell (CL0002277)
    Fold Change: 0.29
    Marker Score: 73
  • Cell Name: epithelial fate stem cell (CL0000036)
    Fold Change: 0.29
    Marker Score: 82
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.28
    Marker Score: 89
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.28
    Marker Score: 167
  • Cell Name: enterocyte of epithelium proper of ileum (CL1000342)
    Fold Change: 0.28
    Marker Score: 80
  • Cell Name: type L enteroendocrine cell (CL0002279)
    Fold Change: 0.27
    Marker Score: 74
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 0.27
    Marker Score: 77
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.27
    Marker Score: 100
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.26
    Marker Score: 151
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.26
    Marker Score: 112
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 0.26
    Marker Score: 1699
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.26
    Marker Score: 88

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Other Information

**Key characteristics:** - GJB1 is a transmembrane protein with a molecular weight of approximately 140 kDa. - It is expressed in a variety of cell types, including epithelial cells, stem cells, enterocytes, and neurons. - GJB1 is a key component of gap junctions, which are important for the communication between cells in the nervous system. **Pathways and functions:** - GJB1 is involved in cell-cell signaling, developmental biology, and the regulation of the nervous system. - It is a key component of gap junctions, which are channels that connect the cytoplasm of adjacent cells and allow the exchange of small molecules, ions, and signaling molecules. - GJB1 is also involved in the regulation of the oligomerization of connexins into gap junctions. - It is a key component of the developmental process of the nervous system, and its expression is upregulated in neurons during development. **Clinical significance:** - Mutations in GJB1 have been linked to several neurological disorders, including autism, schizophrenia, and epilepsy. - GJB1 is a potential therapeutic target for these disorders, as it is a key component of gap junctions that are disrupted in these diseases. **Additional notes:** - GJB1 is a highly conserved protein, with a similar sequence found in organisms from yeast to humans. - It is a member of the connexin family of gap junction proteins, which are a large family of proteins that are involved in the formation and maintenance of gap junctions.

Genular Protein ID: 2115392932

Symbol: CXB1_HUMAN

Name: Gap junction beta-1 protein

UniProtKB Accession Codes:

P08034 B2R8R2 D3DVV2 Q5U0S4

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 9 EMDB 6 Ensembl 11 ExpressionAtlas 1 GO 10 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 5 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 8 PDBsum 7 PIR 1 PRINTS 2 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 3 RefSeq 4 SIGNOR 1 SMART 2 SMR 1 STRING 1 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 2875078

Title: Cloning and characterization of human and rat liver cDNAs coding for a gap junction protein.

PubMed ID: 2875078

DOI: 10.1083/jcb.103.3.767

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

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: 2460334

Title: Topology of the 32-kd liver gap junction protein determined by site-directed antibody localizations.

PubMed ID: 2460334

DOI: 10.1002/j.1460-2075.1988.tb03159.x

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 15383278

Title: A Calpha model for the transmembrane alpha helices of gap junction intercellular channels.

PubMed ID: 15383278

DOI: 10.1016/j.molcel.2004.08.016

PubMed ID: 9888385

Title: Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies.

PubMed ID: 9888385

DOI: 10.1002/(sici)1098-1004(1999)13:1<11::aid-humu2>3.0.co;2-a

PubMed ID: 8266101

Title: Connexin mutations in X-linked Charcot-Marie-Tooth disease.

PubMed ID: 8266101

DOI: 10.1126/science.8266101

PubMed ID: 8162049

Title: Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1).

PubMed ID: 8162049

DOI: 10.1093/hmg/3.1.29

PubMed ID: 8004109

Title: Point mutations of the connexin32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy.

PubMed ID: 8004109

DOI: 10.1093/hmg/3.2.355

PubMed ID: 7833935

Title: X-linked dominant Charcot-Marie-Tooth neuropathy: valine-38-methionine substitution of connexin32.

PubMed ID: 7833935

DOI: 10.1093/hmg/3.9.1699

PubMed ID: 7477983

Title: New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease.

PubMed ID: 7477983

DOI: 10.1212/wnl.45.10.1863

PubMed ID: 8737658

Title: Correlation between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-Tooth neuropathy.

PubMed ID: 8737658

DOI: 10.1002/(sici)1096-8628(19960614)63:3<486::aid-ajmg14>3.0.co;2-i

PubMed ID: 8698335

Title: X-linked dominant Charcot-Marie-Tooth neuropathy (CMTX): new mutations in the connexin32 gene.

PubMed ID: 8698335

DOI: 10.1007/s004390050183

PubMed ID: 8829637

Title: Novel mutations in the connexin 32 gene associated with X-linked Charcot-Marie tooth disease.

PubMed ID: 8829637

DOI: 10.1002/(sici)1098-1004(1996)7:2<167::aid-humu14>3.0.co;2-0

PubMed ID: 8807343

Title: Novel missense mutation of the connexin32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy.

PubMed ID: 8807343

DOI: 10.1002/(sici)1098-1004(1996)8:1<83::aid-humu14>3.0.co;2-n

PubMed ID: 8889588

Title: Two novel mutations (C53S, S26L) in the connexin32 of Charcot-Marie-Tooth disease type X families.

PubMed ID: 8889588

DOI: 10.1002/(sici)1098-1004(1996)8:3<270::aid-humu12>3.0.co;2-#

PubMed ID: 8956046

Title: A point mutation in codon 3 of connexin-32 is associated with X-linked Charcot-Marie-Tooth neuropathy.

PubMed ID: 8956046

DOI: 10.1002/(sici)1098-1004(1996)8:4<375::aid-humu14>3.0.co;2-#

PubMed ID: 8733054

Title: Arginine-164-tryptophan substitution in connexin32 associated with X linked dominant Charcot-Marie-Tooth disease.

PubMed ID: 8733054

DOI: 10.1136/jmg.33.5.413

PubMed ID: 8628473

Title: Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosomes 1p35-p36 and Xq13.

PubMed ID: 8628473

DOI: 10.1212/wnl.46.5.1311

PubMed ID: 9018031

Title: New mutations in the X-linked form of Charcot-Marie-Tooth disease.

PubMed ID: 9018031

DOI: 10.1159/000117403

PubMed ID: 9099841

Title: Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1).

PubMed ID: 9099841

DOI: 10.1007/s004390050396

PubMed ID: 9187667

Title: Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.

PubMed ID: 9187667

DOI: 10.1007/s004390050442

PubMed ID: 9272161

Title: Screening for connexin 32 mutations in Charcot-Marie-Tooth disease families with possible X-linked inheritance.

PubMed ID: 9272161

DOI: 10.1007/s004390050522

PubMed ID: 8990008

Title: Mutation analysis of the connexin 32 (Cx32) gene in Charcot-Marie-Tooth neuropathy type 1: identification of five new mutations.

PubMed ID: 8990008

DOI: 10.1002/(sici)1098-1004(1997)9:1<47::aid-humu8>3.0.co;2-m

PubMed ID: 9401007

Title: Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 families.

PubMed ID: 9401007

DOI: 10.1002/(sici)1098-1004(1997)10:6<443::aid-humu5>3.0.co;2-e

PubMed ID: 9361298

Title: Connexin32 and X-linked Charcot-Marie-Tooth disease.

PubMed ID: 9361298

DOI: 10.1006/nbdi.1997.0152

PubMed ID: 10732813

Title: Mutations in the X-linked form of Charcot-Marie-Tooth disease in the French population.

PubMed ID: 10732813

DOI: 10.1007/s100480050017

PubMed ID: 9856562

Title: Four novel mutations of the connexin 32 gene in four Japanese families with Charcot-Marie-Tooth disease type 1.

PubMed ID: 9856562

DOI: 10.1002/(sici)1096-8628(19981204)80:4<352::aid-ajmg9>3.0.co;2-r

PubMed ID: 10873293

Title: X-linked Charcot-Marie-Tooth disease and connexin32.

PubMed ID: 10873293

DOI: 10.1006/cbir.1998.0387

PubMed ID: 9452025

Title: A novel mutation (C201R) in the transmembrane domain of connexin 32 in severe X-linked Charcot-Marie-Tooth disease.

PubMed ID: 9452025

DOI: 10.1002/humu.1380110104

PubMed ID: 9452099

Title: Mutation analysis in Charcot-Marie-Tooth disease type 1 (CMT1).

PubMed ID: 9452099

DOI: 10.1002/humu.1380110178

PubMed ID: 9633821

Title: Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies.

PubMed ID: 9633821

DOI: 10.1002/(sici)1098-1004(1998)12:1<59::aid-humu9>3.0.co;2-a

PubMed ID: 9469569

Title: Mutations of connexin32 in Charcot-Marie-Tooth disease type X interfere with cell-to-cell communication but not cell proliferation and myelin-specific gene expression.

PubMed ID: 9469569

DOI: 10.1002/(sici)1097-4547(19980115)51:2<154::aid-jnr4>3.0.co;2-c

PubMed ID: 9818870

Title: Efficient neurophysiologic selection of X-linked Charcot-Marie-Tooth families: ten novel mutations.

PubMed ID: 9818870

DOI: 10.1212/wnl.51.5.1412

PubMed ID: 10586284

Title: HMSN and HNPP. Laboratory service provision in the south west of England -- two years' experience.

PubMed ID: 10586284

DOI: 10.1111/j.1749-6632.1999.tb08621.x

PubMed ID: 10220155

Title: Three novel mutations in the gap junction beta 1 (GJB1) gene coding region identified in Charcot-Marie-Tooth patients of Greek origin: T55I, R164Q, V120E.

PubMed ID: 10220155

PubMed ID: 10071100

Title: Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin 32 gene.

PubMed ID: 10071100

DOI: 10.1136/jnnp.66.2.202

PubMed ID: 10234007

Title: Altered formation of hemichannels and gap junction channels caused by C-terminal connexin-32 mutations.

PubMed ID: 10234007

DOI: 10.1523/jneurosci.19-10-03752.1999

PubMed ID: 11140841

Title: Mutational analysis and genotype/phenotype correlation in Turkish Charcot-Marie-Tooth type 1 and HNPP patients.

PubMed ID: 11140841

DOI: 10.1034/j.1399-0004.2000.580511.x

PubMed ID: 11030070

Title: A family with X-linked dominant Charcot-Marie-Tooth caused by a connexin32 mutation.

PubMed ID: 11030070

DOI: 10.1053/ejpn.2000.0311

PubMed ID: 10894999

Title: Severe X-linked Charcot-Marie-Tooth neuropathy due to new mutations [G59R(G-->C), W44X(G-->A)] in the connexin 32 gene.

PubMed ID: 10894999

DOI: 10.1159/000008196

PubMed ID: 10737979

Title: Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients.

PubMed ID: 10737979

DOI: 10.1002/(sici)1098-1004(200004)15:4<340::aid-humu6>3.0.co;2-y

PubMed ID: 10923043

Title: Mutations in the peripheral myelin protein zero and connexin32 genes detected by non-isotopic RNase cleavage assay and their phenotypes in Japanese patients with Charcot-Marie-Tooth disease.

PubMed ID: 10923043

DOI: 10.1002/1098-1004(200008)16:2<177::aid-humu14>3.0.co;2-5

PubMed ID: 10938190

Title: A new de novo mutation of the connexin-32 gene in a patient with X-linked Charcot-Marie-Tooth type 1 disease.

PubMed ID: 10938190

DOI: 10.1007/s100720070105

PubMed ID: 11571214

Title: Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease.

PubMed ID: 11571214

DOI: 10.1093/brain/124.10.1958

PubMed ID: 11180613

Title: A novel connexin 32 missense mutation (E208G) causing Charcot-Marie-Tooth disease.

PubMed ID: 11180613

DOI: 10.1002/1098-1004(200102)17:2<157::aid-humu22>3.0.co;2-e

PubMed ID: 11438991

Title: Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: mutation analysis in a large cohort of Italian families.

PubMed ID: 11438991

DOI: 10.1002/humu.1147

PubMed ID: 11562788

Title: Charcot-Marie-Tooth type X: a novel mutation in the Cx32 gene with central conduction slowing.

PubMed ID: 11562788

PubMed ID: 11437164

Title: Mutation analysis in Chariot-Marie Tooth disease type 1: point mutations in the MPZ gene and the GJB1 gene cause comparable phenotypic heterogeneity.

PubMed ID: 11437164

DOI: 10.1007/s004150170183

PubMed ID: 11723288

Title: Episodes of generalized weakness in two sibs with the C164T mutation of the connexin 32 gene.

PubMed ID: 11723288

DOI: 10.1212/wnl.57.10.1906

PubMed ID: 11835375

Title: Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.

PubMed ID: 11835375

DOI: 10.1002/ana.10089

PubMed ID: 12325071

Title: Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease.

PubMed ID: 12325071

DOI: 10.1002/ana.10305

PubMed ID: 12402337

Title: Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations.

PubMed ID: 12402337

DOI: 10.1002/humu.10134

PubMed ID: 12185164

Title: Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease.

PubMed ID: 12185164

DOI: 10.1136/jnnp.73.3.304

PubMed ID: 12460545

Title: Diverse trafficking abnormalities of connexin32 mutants causing CMTX.

PubMed ID: 12460545

DOI: 10.1006/nbdi.2002.0545

PubMed ID: 12536289

Title: X-linked Charcot-Marie-Tooth disease caused by a novel point mutation in the connexin-32 gene.

PubMed ID: 12536289

DOI: 10.1007/s100720200061

PubMed ID: 12207932

Title: Charcot-Marie-Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes.

PubMed ID: 12207932

DOI: 10.1016/s0960-8966(02)00021-4

PubMed ID: 11891346

Title: Voltage opens unopposed gap junction hemichannels formed by a connexin 32 mutant associated with X-linked Charcot-Marie-Tooth disease.

PubMed ID: 11891346

DOI: 10.1073/pnas.261713499

PubMed ID: 12707076

Title: Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation.

PubMed ID: 12707076

DOI: 10.1001/archneur.60.4.605

PubMed ID: 12477701

Title: Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients.

PubMed ID: 12477701

DOI: 10.1093/brain/awg012

PubMed ID: 12497641

Title: Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.

PubMed ID: 12497641

DOI: 10.1002/humu.9101

PubMed ID: 14627639

Title: Pathogenesis of X-linked Charcot-Marie-Tooth disease: differential effects of two mutations in connexin 32.

PubMed ID: 14627639

DOI: 10.1523/jneurosci.23-33-10548.2003

PubMed ID: 15241803

Title: Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.

PubMed ID: 15241803

DOI: 10.1002/humu.9261

PubMed ID: 15852376

Title: Severe neuropathy with leaky connexin32 hemichannels.

PubMed ID: 15852376

DOI: 10.1002/ana.20459

PubMed ID: 15468313

Title: X-linked Charcot-Marie-Tooth disease: phenotypic expression of a novel mutation Ile127Ser in the GJB1 (connexin 32) gene.

PubMed ID: 15468313

DOI: 10.1002/mus.20166

PubMed ID: 15947997

Title: Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family.

PubMed ID: 15947997

DOI: 10.1007/s10048-005-0217-4

PubMed ID: 27234031

Title: Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.

PubMed ID: 27234031

DOI: 10.1111/cge.12810

Sequence Information:

  • Length: 283
  • Mass: 32025
  • Checksum: 8222C4811D12451E
  • Sequence:
    • MNWTGLYTLL SGVNRHSTAI GRVWLSVIFI FRIMVLVVAA ESVWGDEKSS FICNTLQPGC 
NSVCYDQFFP ISHVRLWSLQ LILVSTPALL VAMHVAHQQH IEKKMLRLEG HGDPLHLEEV 
KRHKVHISGT LWWTYVISVV FRLLFEAVFM YVFYLLYPGY AMVRLVKCDV YPCPNTVDCF 
VSRPTEKTVF TVFMLAASGI CIILNVAEVV YLIIRACARR AQRRSNPPSR KGSGFGHRLS 
PEYKQNEINK LLSEQDGSLK DILRRSPGTG AGLAEKSDRC SAC

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.