| Gene Symbol | GJB4 |
| Entrez Gene ID | 127534 |
| Full Name | gap junction protein beta 4 |
| Synonyms | CX30.3,EKV,EKVP2 |
| General protein information |
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| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| Summary | 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]. |
| Disorder MIM: | |
| Disorder Html: | Erythrokeratodermia variabilis et progressiva 2, 617524 (3) |
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