GJB3 Infographic
Gap junction beta-3 protein Info At a glance, species: Human
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Gap junction beta-3 protein (GJB3)
One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. .
Gene Information
| Human | |
|---|---|
| Gene Name: | GJB3 |
| Uniprot: | O75712 |
| Entrez: | 2707 |
Family
| Belongs to: |
|---|
| connexin family |
Alternative Names
Connexin 31; connexin-31; Cx31; CX31MGC102938; DFNA2; DFNA2B; EKV; erythrokeratodermia variabilis; FLJ22486; gap junction beta-3 protein; gap junction protein, beta 3, 31kD (connexin 31); gap junction protein, beta 3, 31kDa (connexin 31); gap junction protein, beta 3, 31kDa; GJB3
Molecular Weight
Mass (kDA):
30.818 kDA
Genomic Context
| Human | |
|---|---|
| Location: | 1p34.3 |
| Sequence: | 1; NC_000001.11 (34781214..34786364) |
Subcellular Localizations
Cell membrane; Multi-pass membrane protein. Cell junction, gap junction.
Diseases
- Complete Hearing Loss
- Erythrokeratodermia Variabilis
- Sensorineural Hearing Loss (disorder)
- Dermatologic Disorders
- Erythema
- Skin Diseases, Genetic
- Keratosis
- Hyperkeratosis
- Peripheral Neuropathy
- Palmoplantar Keratosis
Pathways
- Pathogenesis
- Localization
- Cell Death
- Transport
- Spermatogenesis
- Keratinization
- Developmental Process
- Cornification
- Keratinocyte Differentiation
- Cell Proliferation
- Cell Migration
- Immune Response
- Pigmentation
PTMs
- Phosphorylation
For details, visit:
bosterbio.com/bosterbio-gene-info-cards/GJB3
bosterbio.com/bosterbio-gene-info-cards/GJB3
References
PMID: 9704026 by Wenzel K., et al. Human gap junction protein connexin31: molecular cloning and expression analysis.
PMID: 9843209 by Richard G., et al. Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis.
