Gap Junction Protein, Beta-1

Alternative Names

  • GJB1
  • Gap Junction Protein, 32-KD
  • Connexin 32
  • CX32
  • Liver Connexin
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OMIM Number

304040

NCBI Gene ID

2705

Uniprot ID

P08034

Length

10,323 bases

No. of Exons

4

No. of isoforms

1

Protein Name

Gap junction beta-1 protein

Molecular Mass

32025 Da

Amino Acid Count

283

Genomic Location

chrX:71,215,194-71,225,516

Gene Map Locus
Xq13.1

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. [From Refseq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000166.6:c.139G>ALebanonchrX:71223845Likely PathogenicLikely PathogenicCharcot-Marie-Tooth Disease, X-Linked Dominant, 1NG_008357.1:g.13635G>A; NM_000166.6:c.139G>A; NP_001091111.1:p.Glu47Lys916378
NM_001097642.2:c.164_184dupLebanonchrX:71223871-71223891Uncertain SignificancePathogenicCharcot-Marie-Tooth Disease, X-Linked Dominant, 1NG_008357.1:g.13660_13680dup; NM_001097642.2:c.164_184dup; NP_001091111.1:p.Thr55_An61dup1555937071477589
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