GJB1
entrez
2705
canonical
uniprot
P08034
canonical
ensembl
ENSG00000169562
resolver
ensp
ENSP00000354900
resolver
ensp
ENSP00000363141
resolver
ensp
ENSP00000407223
resolver
ensp
ENSP00000494142
resolver
ensp
ENSP00000494596
resolver
ensp
ENSP00000495960
resolver
ensp
ENSP00000501571
resolver
ensp
ENSP00000501757
resolver
ensp
ENSP00000501813
resolver
ensp
ENSP00000502556
resolver
ensp
ENSP00000502766
resolver
ensp
ENSP00000540807
resolver
ensp
ENSP00000540808
resolver
ensp
ENSP00000540809
resolver
ensp
ENSP00000540810
resolver
ensp
ENSP00000540811
resolver
ensp
ENSP00000540812
resolver
ensp
ENSP00000540813
resolver
ensp
ENSP00000540814
resolver
ensp
ENSP00000540815
resolver
ensp
ENSP00000540816
resolver
ensp
ENSP00000540817
resolver
ensp
ENSP00000540818
resolver
ensp
ENSP00000540819
resolver
enst
ENST00000361726
resolver
enst
ENST00000374029
resolver
enst
ENST00000447581
resolver
enst
ENST00000645009
resolver
enst
ENST00000646835
resolver
enst
ENST00000647424
resolver
enst
ENST00000674549
resolver
enst
ENST00000674844
resolver
enst
ENST00000675209
resolver
enst
ENST00000675368
resolver
enst
ENST00000675609
resolver
enst
ENST00000870748
resolver
enst
ENST00000870749
resolver
enst
ENST00000870750
resolver
enst
ENST00000870751
resolver
enst
ENST00000870752
resolver
enst
ENST00000870753
resolver
enst
ENST00000870754
resolver
enst
ENST00000870755
resolver
enst
ENST00000870756
resolver
enst
ENST00000870757
resolver
enst
ENST00000870758
resolver
enst
ENST00000870759
resolver
enst
ENST00000870760
resolver
genesymbol
GJB1
resolver
genesymbol_syn
CX32
resolver
hgnc
HGNC:4283
resolver
uniprot
B2R8R2
resolver
uniprot
D3DVV2
resolver
uniprot
Q5U0S4
resolver
uniprot_entry
CXB1_HUMAN
resolver
uniprot_sec
B2R8R2
resolver
uniprot_sec
D3DVV2
resolver
uniprot_sec
Q5U0S4
resolver
amino_acid_sequence
MNWTGLYTLLSGVNRHSTAIGRVWLSVIFIFRIMVLVVAAESVWGDEKSSFICNTLQPGCNSVCYDQFFPISHVRLWSLQLILVSTPALLVAMHVAHQQHIEKKMLRLEGHGDPLHLEEVKRHKVHISGTLWWTYVISVVFRLLFEAVFMYVFYLLYPGYAMVRLVKCDVYPCPNTVDCFVSRPTEKTVFTVFMLAASGICIILNVAEVVYLIIRACARRAQRRSNPPSRKGSGFGHRLSPEYKQNEINKLLSEQDGSLKDILRRSPGTGAGLAEKSDRCSAC
uniprot
proteins
disease_involvement
DISEASE: 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|PubMed:9888385, ECO:0000269|Ref.12}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: 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.
uniprot
proteins
function
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.
uniprot
proteins
mass_dalton
32025
uniprot
proteins
protein_family
Beta-type (group I) subfamily
uniprot
proteins
protein_family
Connexin family
uniprot
proteins
pubmed
10071100
uniprot
proteins
pubmed
10220155
uniprot
proteins
pubmed
10234007
uniprot
proteins
pubmed
10586284
uniprot
proteins
pubmed
10732813
uniprot
proteins
pubmed
10737979
uniprot
proteins
pubmed
10873293
uniprot
proteins
pubmed
10894999
uniprot
proteins
pubmed
10923043
uniprot
proteins
pubmed
10938190
uniprot
proteins
pubmed
11030070
uniprot
proteins
pubmed
11140841
uniprot
proteins
pubmed
11180613
uniprot
proteins
pubmed
11437164
uniprot
proteins
pubmed
11438991
uniprot
proteins
pubmed
11562788
uniprot
proteins
pubmed
11571214
uniprot
proteins
pubmed
11723288
uniprot
proteins
pubmed
11835375
uniprot
proteins
pubmed
11891346
uniprot
proteins
pubmed
12185164
uniprot
proteins
pubmed
12207932
uniprot
proteins
pubmed
12325071
uniprot
proteins
pubmed
12402337
uniprot
proteins
pubmed
12460545
uniprot
proteins
pubmed
12477701
uniprot
proteins
pubmed
12497641
uniprot
proteins
pubmed
12536289
uniprot
proteins
pubmed
12707076
uniprot
proteins
pubmed
14627639
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15241803
uniprot
proteins
pubmed
15383278
uniprot
proteins
pubmed
15468313
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15852376
uniprot
proteins
pubmed
15947997
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
2460334
uniprot
proteins
pubmed
27234031
uniprot
proteins
pubmed
2875078
uniprot
proteins
pubmed
7477983
uniprot
proteins
pubmed
7833935
uniprot
proteins
pubmed
8004109
uniprot
proteins
pubmed
8162049
uniprot
proteins
pubmed
8266101
uniprot
proteins
pubmed
8628473
uniprot
proteins
pubmed
8698335
uniprot
proteins
pubmed
8733054
uniprot
proteins
pubmed
8737658
uniprot
proteins
pubmed
8807343
uniprot
proteins
pubmed
8829637
uniprot
proteins
pubmed
8889588
uniprot
proteins
pubmed
8956046
uniprot
proteins
pubmed
8990008
uniprot
proteins
pubmed
9018031
uniprot
proteins
pubmed
9099841
uniprot
proteins
pubmed
9187667
uniprot
proteins
pubmed
9272161
uniprot
proteins
pubmed
9361298
uniprot
proteins
pubmed
9401007
uniprot
proteins
pubmed
9452025
uniprot
proteins
pubmed
9452099
uniprot
proteins
pubmed
9469569
uniprot
proteins
pubmed
9633821
uniprot
proteins
pubmed
9818870
uniprot
proteins
pubmed
9856562
uniprot
proteins
pubmed
9888385
uniprot
proteins
sequence_length
283
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Cell junction, gap junction.
uniprot
proteins
transmembrane_region
TRANSMEM 23..45; /note="Helical"; /evidence="ECO:0000305"; TRANSMEM 76..95; /note="Helical"; /evidence="ECO:0000305"; TRANSMEM 131..153; /note="Helical"; /evidence="ECO:0000305"; TRANSMEM 192..214; /note="Helical"; /evidence="ECO:0000305
uniprot
proteins