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Gene : GJB1 Homo sapiens

Name  ? gap junction protein beta 1 Cytological Location  Xq13.1
Brief Description  gap junction protein beta 1
Description  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]
  • synonyms:
  • gap junction protein, beta 1, 32kDa (connexin 32),
  • gap junction protein, beta 1, 32kDa (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked),
  • CX32,
  • CX32,
  • OTTHUMG00000021797,
  • CMTX1,
  • gap junction protein, beta 1, 32kD (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked),
  • CMTX,
  • X04325,
  • NM_000166,
  • CMTX,
  • uc004dzf.4,
  • connexin 32,
  • GJB1,
  • HGNC:4283,
  • CMTX1,
  • Charcot-Marie-Tooth neuropathy, X-linked,
  • gap junction protein, beta 1, 32kDa
  • identifiers:
  • 2705,
  • ENSG00000169562,
  • GJB1

Genome feature

Region: gene ? Length: 10305  
Location: X:71215212-71225516 Cyto location: Xq13.1


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Disease

1 Diseases

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56 SN Ps

5 Cross References

18 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results