Gjb1 - gap junction protein, beta 1 Gene

Also Known as Cx32; Cxng; Cnx32; connexin-32

Species: Mus musculus

Gene Type: protein coding
Gene ID: 14618

Summary

This gene is a member of the Gap Junction Protein (connexin) family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of ions and small molecules between cells. Mutations in a similar gene in human cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Oct 2014]

Gjb1 Products (4)

mRNA Protein Name
NM_001302496.1 NP_001289425.1 gap junction beta-1 protein
NM_001302497.1 NP_001289426.1 gap junction beta-1 protein
NM_001302498.1 NP_001289427.1 gap junction beta-1 protein
NM_008124.3 NP_032150.2 gap junction beta-1 protein
Molecular Function GO Annotation Evidence References Source
enables identical protein binding IPI
IPI: Inferred from physical interaction
20578039 MGI
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
20089884 MGI
located in gap junction IDA
IDA: Inferred from direct assay
20089884 MGI
located in plasma membrane IDA
IDA: Inferred from direct assay
12829745 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

gap junction beta-1 protein

  • connexin 32

  • connexin g

  • connexin-43

  • gap junction membrane channel protein beta 1

Orthologs Information

Species Symbol Source ID
Homo sapiens Gjb1 NCBI NCBI:2705