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) |