GJB4 Chromosome 1
Gap junction protein beta 4
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What This Gene Does
This gene encodes a transmembrane connexin protein that is a component of gap junctions. Mutations in this gene have been associated with erythrokeratodermia variabilis, progressive symmetric erythrokeratoderma and hearing impairment. [provided by RefSeq, Dec 2009]
Gene Info
Gene Group
Gap junction proteins
Locus Type
gene with protein product
Location
1p34.3
Ensembl
ENSG00000189433
Associated Conditions (5)
Autosomal dominant nonsyndromic hearing loss 3A
Autosomal recessive nonsyndromic hearing loss 1A
Erythrokeratodermia variabilis et progressiva 1
Erythrokeratodermia variabilis et progressiva 2
Inborn genetic diseases
Key Variants
RS146378222
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 3A, Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant nonsyndromic hearing loss 3A
Health Risk
RS147912521
Conflicting classifications of pathogenicity
Health Risk
RS148182439
Conflicting classifications of pathogenicity
Erythrokeratodermia variabilis et progressiva 1, Erythrokeratodermia variabilis et progressiva 2, Erythrokeratodermia variabilis et progressiva 1
Health Risk
RS149110828
Conflicting classifications of pathogenicity
Erythrokeratodermia variabilis et progressiva 2, Erythrokeratodermia variabilis et progressiva 2
Health Risk
RS201860175
Conflicting classifications of pathogenicity
Erythrokeratodermia variabilis et progressiva 2, Inborn genetic diseases, Erythrokeratodermia variabilis et progressiva 2
Health Risk
RS543341299
Conflicting classifications of pathogenicity
Health Risk
RS80358207
Likely pathogenic
Erythrokeratodermia variabilis et progressiva 2, Erythrokeratodermia variabilis et progressiva 2
Health Risk
RS80358206
Pathogenic
Erythrokeratodermia variabilis et progressiva 2, Erythrokeratodermia variabilis et progressiva 2
Health Risk
RS80358210
Pathogenic
Erythrokeratodermia variabilis et progressiva 2, Erythrokeratodermia variabilis et progressiva 2
Health Risk
RS80358211
Pathogenic
Erythrokeratodermia variabilis et progressiva 2, Erythrokeratodermia variabilis et progressiva 2
Health Risk
RS80358213
Pathogenic
Erythrokeratodermia variabilis et progressiva 2, Erythrokeratodermia variabilis et progressiva 2
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS146378222 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 3A, Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant nonsyndromic hearing loss 3A |
| RS147912521 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS148182439 | Health Risk | Conflicting classifications of pathogenicity | Erythrokeratodermia variabilis et progressiva 1, Erythrokeratodermia variabilis et progressiva 2, Erythrokeratodermia variabilis et progressiva 1 |
| RS149110828 | Health Risk | Conflicting classifications of pathogenicity | Erythrokeratodermia variabilis et progressiva 2, Erythrokeratodermia variabilis et progressiva 2 |
| RS201860175 | Health Risk | Conflicting classifications of pathogenicity | Erythrokeratodermia variabilis et progressiva 2, Inborn genetic diseases, Erythrokeratodermia variabilis et progressiva 2 |
| RS543341299 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS80358207 | Health Risk | Likely pathogenic | Erythrokeratodermia variabilis et progressiva 2, Erythrokeratodermia variabilis et progressiva 2 |
| RS80358206 | Health Risk | Pathogenic | Erythrokeratodermia variabilis et progressiva 2, Erythrokeratodermia variabilis et progressiva 2 |
| RS80358210 | Health Risk | Pathogenic | Erythrokeratodermia variabilis et progressiva 2, Erythrokeratodermia variabilis et progressiva 2 |
| RS80358211 | Health Risk | Pathogenic | Erythrokeratodermia variabilis et progressiva 2, Erythrokeratodermia variabilis et progressiva 2 |
| RS80358213 | Health Risk | Pathogenic | Erythrokeratodermia variabilis et progressiva 2, Erythrokeratodermia variabilis et progressiva 2 |