GJB6 Infographic
Gap junction beta-6 protein Info At a glance, species: Human
Popular Antibodies & ELISA Kits
Gap junction beta-6 protein (GJB6)
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: | GJB6 |
| Uniprot: | O95452 |
| Entrez: | 10804 |
Family
| Belongs to: |
|---|
| connexin family |
Alternative Names
Connexin 30; connexin-30; CX30; CX30gap junction protein, beta 6; DFNA3B; DFNB1B; ectodermal dysplasia 2, hidrotic (Clouston syndrome); ED2; EDH; gap junction beta-6 protein; gap junction protein, beta 6 (connexin 30); gap junction protein, beta 6, 30kDa; GJB6; HEDDFNA3
Molecular Weight
Mass (kDA):
30.387 kDA
Genomic Context
| Human | |
|---|---|
| Location: | 13q12.11 |
| Sequence: | 13; NC_000013.11 (20221962..20232395, complement) |
Subcellular Localizations
Cell membrane; Multi-pass membrane protein. Cell junction, gap junction.
Diseases
- Complete Hearing Loss
- Sensorineural Hearing Loss (disorder)
- Deafness Congenital
- Ectodermal Dysplasia
- Nodular Sclerosis Classical Hodgkin Lymphoma
- Hidrotic Ectodermal Dysplasia
- Deaf Mutism
- Dermatologic Disorders
- Dysplasia
- Neoplasms
- Dystrophy
- Palmoplantar Keratosis
Pathways
- Localization
- Pathogenesis
- Transport
- Mating
- Lactation
- Aging
- Cell Proliferation
- Cornification
- Parturition
- Echolocation
- Synaptic Transmission
- Regeneration
- Cell Death
PTMs
- Demethylation
For details, visit:
bosterbio.com/bosterbio-gene-info-cards/GJB6
bosterbio.com/bosterbio-gene-info-cards/GJB6
References
PMID: 10471490 by Grifa A., et al. Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus.
PMID: 10610709 by Kelley P.M., et al. Human connexin 30 (GJB6), a candidate gene for nonsyndromic hearing loss: molecular cloning, tissue-specific expression, and assignment to chromosome 13q12.