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]
Function:
Connexins are homologous four transmembrane domain proteins and major components of gap junctions. The GJB4 gene encodes connexin 30.3 (Cx30.3). A mutation in connexin 30.3 is causally involved in erythrokeratodermia variabilis (EKV), a mostly autosomal dominant disorder of keratinization.
Subcellular Location:
Plasma membrane
SWISS:
Q9NTQ9
Gene ID:
127534
Database links:
Entrez Gene: 127534 Human
Entrez Gene: 14621 Mouse
Omim: 605425 Human
SwissProt: Q9NTQ9 Human
SwissProt: Q02738 Mouse
Unigene: 351203 Human
Unigene: 56906 Mouse
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