Identity
HGNC
LOCATION
Xq13.1
LOCUSID
ALIAS
CMTX,CMTX1,CX32
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 2705
MIM: 304040
HGNC: 4283
Ensembl: ENSG00000169562
Variants:
dbSNP: 2705
ClinVar: 2705
TCGA: ENSG00000169562
COSMIC: GJB1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38250613 | 2024 | Role of connexin 32 in the directional differentiation of induced pluripotent stem cells into hepatocytes. | 0 |
| 38347637 | 2024 | Connexin32 gap junction channels deliver miR155-3p to mediate pyroptosis in renal ischemia-reperfusion injury. | 0 |
| 38250613 | 2024 | Role of connexin 32 in the directional differentiation of induced pluripotent stem cells into hepatocytes. | 0 |
| 38347637 | 2024 | Connexin32 gap junction channels deliver miR155-3p to mediate pyroptosis in renal ischemia-reperfusion injury. | 0 |
| 36394156 | 2023 | A novel splicing mutation in 5'UTR of GJB1 causes X-linked Charcot-Marie-tooth disease. | 1 |
| 36394156 | 2023 | A novel splicing mutation in 5'UTR of GJB1 causes X-linked Charcot-Marie-tooth disease. | 1 |
| 35383424 | 2022 | GJB1 variants in Charcot-Marie-Tooth disease X-linked type 1 in Mali. | 1 |
| 35894130 | 2022 | Connexin32 regulates expansion of liver cancer stem cells via the PI3K/Akt signaling pathway. | 3 |
| 36397455 | 2022 | Identification of a rare missense mutation in GJB1 and prenatal diagnosis in a Chinese family with CMT: A case report. | 0 |
| 35383424 | 2022 | GJB1 variants in Charcot-Marie-Tooth disease X-linked type 1 in Mali. | 1 |
| 35894130 | 2022 | Connexin32 regulates expansion of liver cancer stem cells via the PI3K/Akt signaling pathway. | 3 |
| 36397455 | 2022 | Identification of a rare missense mutation in GJB1 and prenatal diagnosis in a Chinese family with CMT: A case report. | 0 |
| 34050696 | 2021 | Connexin32 activates necroptosis through Src-mediated inhibition of caspase 8 in hepatocellular carcinoma. | 12 |
| 34146657 | 2021 | Cysteine residues in the C-terminal tail of connexin32 regulate its trafficking. | 1 |
| 34551394 | 2021 | Cx32 inhibits the autophagic effect of Nur77 in SH-SY5Y cells and rat brain with ischemic stroke. | 3 |
Citation
Dessen P
GJB1 (gap junction protein beta 1)
Atlas Genet Cytogenet Oncol Haematol. 2007-02-01
Online version: http://atlasgeneticsoncology.org/gene/43629/gjb1
