GJB4

GENE INFORMATION

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Gene name

GJB4 (HGNC Symbol)

Synonyms

CX30.3

Description

Gap junction protein, beta 4, 30.3kDa (HGNC Symbol)

Entrez gene 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]

Chromosome

1

Cytoband

p34.3

Chromosome location (bp)

34759741 - 34763724

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000189433 (version 78.38)

Entrez gene

127534

UniProt

Q9NTQ9 (UniProt - Evidence at protein level)

neXtProt

NX_Q9NTQ9

Antibodypedia

GJB4 antibodies
 

PROTEIN VIEW

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GJB4-001
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

GJB4-001 ENSP00000345868
ENST00000339480
Q9NTQ9
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