ENSMUSG00000047797


Mus musculus

Features
Gene ID: ENSMUSG00000047797
  
Biological name :Gjb1
  
Synonyms : gap junction protein, beta 1 / Gjb1 / P28230
  
Possible biological names infered from orthology : P08034
  
Species: Mus musculus
  
Chr. number: X
Strand: 1
Band: D
Gene start: 101376378
Gene end: 101385629
  
Corresponding Affymetrix probe sets: 10601161 (MoGene1.0st)   1448766_at (Mouse Genome 430 2.0 Array)   1448767_s_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000062723
Ensembl peptide - ENSMUSP00000113516
Ensembl peptide - ENSMUSP00000113904
NCBI entrez gene - 14618     See in Manteia.
MGI - MGI:95719
RefSeq - NM_001302498
RefSeq - NM_001302496
RefSeq - NM_001302497
RefSeq - NM_008124
RefSeq Peptide - NP_001289425
RefSeq Peptide - NP_001289426
RefSeq Peptide - NP_001289427
RefSeq Peptide - NP_032150
swissprot - P28230
Ensembl - ENSMUSG00000047797
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 cx27.5ENSDARG00000035553Danio rerio
 cx31.7ENSDARG00000058064Danio rerio
 GJB1ENSGALG00000005541Gallus gallus
 GJB1ENSG00000169562Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Gjb6 / P70689 / gap junction protein, beta 6 / O95452*ENSMUSG0000004005553
Gjb2 / Q00977 / gap junction protein, beta 2 / P29033*ENSMUSG0000004635250
Gjb3 / P28231 / gap junction protein, beta 3 / O75712*ENSMUSG0000004236743
Gjb5 / Q02739 / gap junction protein, beta 5 / O95377*ENSMUSG0000004235742
Gjb4 / Q02738 / gap junction protein, beta 4 / Q9NTQ9*ENSMUSG0000004662341
Gjd4 / Q8BSD4 / gap junction protein, delta 4 / Q96KN9*ENSMUSG0000003685525
Gjc3 / Q921C1 / gap junction protein, gamma 3 / Q8NFK1*ENSMUSG0000005696625


Protein motifs (from Interpro)
Interpro ID Name
 IPR000500  Connexin
 IPR002267  Gap junction beta-1 protein (Cx32)
 IPR013092  Connexin, N-terminal
 IPR017990  Connexin, conserved site
 IPR019570  Gap junction protein, cysteine-rich domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007154 cell communication IEA
 biological_processGO:0015868 purine ribonucleotide transport IEA
 biological_processGO:0051259 protein complex oligomerization IEA
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:1905867 epididymis development IEA
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0005921 gap junction IEA
 cellular_componentGO:0005922 connexin complex IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016328 lateral plasma membrane IEA
 cellular_componentGO:0030054 cell junction IEA
 molecular_functionGO:0005243 gap junction channel activity IEA
 molecular_functionGO:0042803 protein homodimerization activity IDA


Pathways (from Reactome)
Pathway description
Oligomerization of connexins into connexons
Gap junction assembly


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000598 abnormal liver morphology "malformation or absence of this bile-secreting exocrine gland, which is important for detoxification; for fat, carbohydrate, and protein metabolism; and for glycogen storage " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:23170]
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Allelic Composition: Gli3Xt-J/Gli3Xt-J
Genetic Background: involves: C3H/HeJ

 MP:0000609 abnormal liver physiology "aberrant function of this bile-secreting exocrine gland, which is important for detoxification; for fat, carbohydrate, and protein metabolism; and for glycogen storage " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Gjb1tm1Kwi/Y
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0000745 tremors "repetitive, cyclical movements of the body or a body part; usually involuntary, but can also manifest in response to an attempt at movement" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Atp1a2tm1Kwk/Atp1a2tm1Kwk
Genetic Background: involves: 129X1/SvJ * C57BL/6J

Allelic Composition: Gjc2tm1Paul/Gjc2tm1Paul,Gjb1tm1Kwi/Gjb1tm1Kwi
Genetic Background: involves: 129/Sv * C57BL/6

Allelic Composition: Gjb1tm1Kwi/Y,Gjc2tm1(EGFP)Kwi/Gjc2tm1(EGFP)Kwi
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0000920 abnormal myelination "atypical or altered myelination in axon sheaths" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Gjc2tm1(EGFP)Kwi/Gjc2tm1(EGFP)Kwi,Gjb1tm1Kwi/Gjb1tm1Kwi
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

Allelic Composition: Gjc2tm1Paul/Gjc2tm1Paul,Gjb1tm1Kwi/Gjb1tm1Kwi
Genetic Background: involves: 129/Sv * C57BL/6

Allelic Composition: Gjb1tm1Kwi/Gjb1tm1Kwi
Genetic Background: involves: 129S4/SvJae

Allelic Composition: Gjb1tm1Kwi/Y
Genetic Background: involves: 129S4/SvJae

Allelic Composition: Gjb1tm1Kwi/Y,Gjc2tm2.1Kwi/Gjc2tm2.1Kwi
Genetic Background: involves: 129S4/SvJae * C57BL/6 * SJL

 MP:0000921 demyelination "loss of the myelin sheath without loss of axons or fiber tracts" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Gli3Xt-J/Gli3Xt-J
Genetic Background: involves: C3H/HeJ

Allelic Composition: Gjb1tm1Kwi/Y
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Gjc2tm1(EGFP)Kwi/Gjc2tm1(EGFP)Kwi,Gjb1tm1Kwi/Gjb1tm1Kwi
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

Allelic Composition: Gjc2tm1Paul/Gjc2tm1Paul,Gjb1tm1Kwi/Gjb1tm1Kwi
Genetic Background: involves: 129/Sv * C57BL/6

Allelic Composition: Gjb1tm1Kwi/Gjb1tm1Kwi
Genetic Background: involves: 129S4/SvJae

Allelic Composition: Gjb1tm1Kwi/Gjb1+
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Gjb1tm1Kwi/Y,Gjc2tm1(EGFP)Kwi/Gjc2tm1(EGFP)Kwi
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0000951 sporadic seizures "occasional seizures occuring at irregular intervals" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Atp1a2tm1Kwk/Atp1a2tm1Kwk
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0000953 abnormal oligodendrocyte morphology "anomalous structure, number or composition of the neuroglia of the central nervous system that form the insulating myelin sheath of axons in the CNS" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Gjc2tm1(EGFP)Kwi/Gjc2tm1(EGFP)Kwi,Gjb1tm1Kwi/Gjb1tm1Kwi
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

Allelic Composition: Gjb1tm1Kwi/Y,Gjc2tm1(EGFP)Kwi/Gjc2tm1(EGFP)Kwi
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0001106 abnormal Schwann cell "malformed or absent cells which form the insulating myelin sheaths of peripheral axons" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Gli3Xt-J/Gli3Xt-J
Genetic Background: involves: C3H/HeJ

Allelic Composition: Gjb1tm1Kwi/Y
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Gjb1tm1Kwi/Gjb1tm1Kwi
Genetic Background: involves: 129S4/SvJae

Allelic Composition: Gjb1tm1Kwi/Gjb1+
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Gli3Xt-J/Gli3Xt-J
Genetic Background: involves: C3H/HeJ

Allelic Composition: Gjb1tm1Kwi/Y
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0001333 absent optic nerve "absence of the second cranial nerve which is responsible for conveying visual information from the retina to the brain" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Gjc2tm1Paul/Gjc2tm1Paul,Gjb1tm1Kwi/Gjb1tm1Kwi
Genetic Background: involves: 129/Sv * C57BL/6

 MP:0001393 ataxia "inability to coordinate voluntary muscular movements" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67231]
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Allelic Composition: Gjb1tm1Kwi/Y,Gjc2tm2.1Kwi/Gjc2tm2.1Kwi
Genetic Background: involves: 129S4/SvJae * C57BL/6 * SJL

 MP:0001405 impaired coordination "reduced ability to execute integrated movements of muscle" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Atp1a2tm1Kwk/Atp1a2tm1Kwk
Genetic Background: involves: 129X1/SvJ * C57BL/6J

Allelic Composition: Gjb1tm1Kwi/Y,Gjc2tm1(EGFP)Kwi/Gjc2tm1(EGFP)Kwi
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
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Allelic Composition: Atp1a2tm1Kwk/Atp1a2tm1Kwk
Genetic Background: involves: 129X1/SvJ * C57BL/6J

Allelic Composition: Gjb1tm1Kwi/Y,Gjc2tm1(EGFP)Kwi/Gjc2tm1(EGFP)Kwi
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0002064 seizures "sudden and often acute manifestation of epileptic attack, sometimes convulsive" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Atp1a2tm1Kwk/Atp1a2tm1Kwk
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0002066 abnormal motor capabilities/coordination/movement "altered ability to coordinate voluntary movement or repetitive, compulsive movements" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Gjc2tm2.1Kwi/Gjc2+
Genetic Background: involves: C57BL/6 * SJL

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Atp1a2tm1Kwk/Atp1a2tm1Kwk
Genetic Background: involves: 129X1/SvJ * C57BL/6J

Allelic Composition: Gjc2tm1Paul/Gjc2tm1Paul,Gjb1tm1Kwi/Gjb1tm1Kwi
Genetic Background: involves: 129/Sv * C57BL/6

Allelic Composition: Gjb1tm1Kwi/Y,Gjc2tm2.1Kwi/Gjc2tm2.1Kwi
Genetic Background: involves: 129S4/SvJae * C57BL/6 * SJL

Allelic Composition: Gjb1tm1Kwi/Y,Gjc2tm1(EGFP)Kwi/Gjc2tm1(EGFP)Kwi
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0002229 CNS neurodegeneration "a retrogressive impairment of function or destruction of neural tissue" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Gjc2tm1(EGFP)Kwi/Gjc2tm1(EGFP)Kwi,Gjb1tm1Kwi/Gjb1tm1Kwi
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0002826 tonic seizures "increased number or decreased threshold for the induction of a seizure characterized by muscle rigidity" [hdene:Howard Dene , Mouse Genome Informatics Curator]
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Allelic Composition: Gjc2tm1(EGFP)Kwi/Gjc2tm1(EGFP)Kwi,Gjb1tm1Kwi/Gjb1tm1Kwi
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

Allelic Composition: Gjc2tm1Paul/Gjc2tm1Paul,Gjb1tm1Kwi/Gjb1tm1Kwi
Genetic Background: involves: 129/Sv * C57BL/6

Allelic Composition: Gjb1tm1Kwi/Y,Gjc2tm1(EGFP)Kwi/Gjc2tm1(EGFP)Kwi
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0003354 astrocytosis "a proliferation or spread of astrocytes in the area of a degenerative lesion or damaged tissue" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Gjc2tm1(EGFP)Kwi/Gjc2tm1(EGFP)Kwi,Gjb1tm1Kwi/Gjb1tm1Kwi
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

Allelic Composition: Gjb1tm1Kwi/Y,Gjc2tm2.1Kwi/Gjc2tm2.1Kwi
Genetic Background: involves: 129S4/SvJae * C57BL/6 * SJL

Allelic Composition: Gjb1tm1Kwi/Y,Gjc2tm1(EGFP)Kwi/Gjc2tm1(EGFP)Kwi
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0003632 abnormal nervous system morphology 
Show

Allelic Composition: Gli3Xt-J/Gli3Xt-J
Genetic Background: involves: C3H/HeJ

Allelic Composition: Gjb1tm1Kwi/Y
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Gjb1tm1Kwi/Gjb1tm1Kwi
Genetic Background: involves: 129S4/SvJae

Allelic Composition: Gjb1tm1Kwi/Gjb1+
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0003871 abnormal myelin sheath morphology "malformation of the insulating envelope that surrounds nerve fibers or axons" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Gli3Xt-J/Gli3Xt-J
Genetic Background: involves: C3H/HeJ

Allelic Composition: Gjb1tm1Kwi/Y
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Gjb1tm1Kwi/Gjb1+
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0005403 abnormal nerve conduction "anomaly in the act of transmitting electricity along a single nerve" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Gjb1tm1Kwi/Gjb1tm1Kwi
Genetic Background: involves: 129S4/SvJae

Allelic Composition: Gjb1tm1Kwi/Y
Genetic Background: involves: 129S4/SvJae

 MP:0005404 abnormal axon morphology "anomaly in the structure of the single process of a nerve cell that normally conducts impulses away from the cell body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Gli3Xt-J/Gli3Xt-J
Genetic Background: involves: C3H/HeJ

Allelic Composition: Gjb1tm1Kwi/Y
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Gjb1tm1Kwi/Gjb1tm1Kwi
Genetic Background: involves: 129S4/SvJae

 MP:0005405 axon degeneration "retrogressive pathologic change in the single process of a nerve cell " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Gjc2tm1(EGFP)Kwi/Gjc2tm1(EGFP)Kwi,Gjb1tm1Kwi/Gjb1tm1Kwi
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

Allelic Composition: Gjb1tm1Kwi/Y,Gjc2tm1(EGFP)Kwi/Gjc2tm1(EGFP)Kwi
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0006082 CNS inflammation "local accumulation of fluid, plasma proteins, and leukocytes in the brain and/or spinal cord" [smb:Susan M Bello, Mouse Genome Informatics Curator, ncbi:NCBI request]
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Allelic Composition: Gjc2tm1(EGFP)Kwi/Gjc2tm1(EGFP)Kwi,Gjb1tm1Kwi/Gjb1tm1Kwi
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

Allelic Composition: Gjb1tm1Kwi/Y,Gjc2tm1(EGFP)Kwi/Gjc2tm1(EGFP)Kwi
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0008918 microgliosis "a proliferation or spread of microglia in the area of a degenerative lesion or damaged tissue" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Gjc2tm1(EGFP)Kwi/Gjc2tm1(EGFP)Kwi,Gjb1tm1Kwi/Gjb1tm1Kwi
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

Allelic Composition: Gjb1tm1Kwi/Y,Gjc2tm1(EGFP)Kwi/Gjc2tm1(EGFP)Kwi
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0010205 abnormal oligodendrocyte apoptosis "change in the timing or the number of oligodendrocytes undergoing programmed cell death" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Gjc2tm1(EGFP)Kwi/Gjc2tm1(EGFP)Kwi,Gjb1tm1Kwi/Gjb1tm1Kwi
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

Allelic Composition: Gjb1tm1Kwi/Y,Gjc2tm1(EGFP)Kwi/Gjc2tm1(EGFP)Kwi
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0010400 increased liver glycogen level "greater than the normal concentration of a readily converted carbohydrate reserve in liver" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Gjb1tm1Kwi/Y
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0013438 dysmyelination "reduced amount of myelin present in the form of a myelin sheath surrounding an axon due to defects in the synthesis and formation of myelin" [MGI:csmith]
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Allelic Composition: Gjc2tm1(EGFP)Kwi/Gjc2tm1(EGFP)Kwi,Gjb1tm1Kwi/Gjb1tm1Kwi
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

Allelic Composition: Gjb1tm1Kwi/Y,Gjc2tm1(EGFP)Kwi/Gjc2tm1(EGFP)Kwi
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000047797 Gjb1 / P28230 / gap junction protein, beta 1 / P08034*  / complex / reaction






 

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