KEGG   Homo sapiens (human): 2705Help
Entry
2705              CDS       T01001                                 

Gene name
GJB1, CMTX, CMTX1, CX32
Definition
(RefSeq) gap junction protein beta 1
  KO
K07620  
gap junction protein, beta 1
Organism
hsa  Homo sapiens (human)
Disease
H00264  
Charcot-Marie-Tooth disease (CMT)
SSDB OrthologParalogGFIT
Motif
Pfam: 
Motif
Other DBs
NCBI-ProteinID: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Position
Xq13.1
AA seq 283 aa AA seqDB search
MNWTGLYTLLSGVNRHSTAIGRVWLSVIFIFRIMVLVVAAESVWGDEKSSFICNTLQPGC
NSVCYDQFFPISHVRLWSLQLILVSTPALLVAMHVAHQQHIEKKMLRLEGHGDPLHLEEV
KRHKVHISGTLWWTYVISVVFRLLFEAVFMYVFYLLYPGYAMVRLVKCDVYPCPNTVDCF
VSRPTEKTVFTVFMLAASGICIILNVAEVVYLIIRACARRAQRRSNPPSRKGSGFGHRLS
PEYKQNEINKLLSEQDGSLKDILRRSPGTGAGLAEKSDRCSAC
NT seq 852 nt NT seq  +upstreamnt  +downstreamnt
atgaactggacaggtttgtacaccttgctcagtggcgtgaaccggcattctactgccatt
ggccgagtatggctctcggtcatcttcatcttcagaatcatggtgctggtggtggctgca
gagagtgtgtggggtgatgagaaatcttccttcatctgcaacacactccagcctggctgc
aacagcgtttgctatgaccaattcttccccatctcccatgtgcggctgtggtccctgcag
ctcatcctagtttccaccccagctctcctcgtggccatgcacgtggctcaccagcaacac
atagagaagaaaatgctacggcttgagggccatggggaccccctacacctggaggaggtg
aagaggcacaaggtccacatctcagggacactgtggtggacctatgtcatcagcgtggtg
ttccggctgttgtttgaggccgtcttcatgtatgtcttttatctgctctaccctggctat
gccatggtgcggctggtcaagtgcgacgtctacccctgccccaacacagtggactgcttc
gtgtcccgccccaccgagaaaaccgtcttcaccgtcttcatgctagctgcctctggcatc
tgcatcatcctcaatgtggccgaggtggtgtacctcatcatccgggcctgtgcccgccga
gcccagcgccgctccaatccaccttcccgcaagggctcgggcttcggccaccgcctctca
cctgaatacaagcagaatgagatcaacaagctgctgagtgagcaggatggctccctgaaa
gacatactgcgccgcagccctggcaccggggctgggctggctgaaaagagcgaccgctgc
tcggcctgctga

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