Gjb1 - gap junction protein, beta 1 Gene
Also Known as Cx32; Cxng; Cnx32; connexin-32
Species: Mus musculus
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 |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
gap junction beta-1 protein |
|
|