Details for Gene GJB3

GENE NAME GJB3
CHROMOSOME 1
ENSEMBL ID ENSG00000188910
ENTREZ ID 2707
UNIPROT ACCESSION NUMBER O75712
GO MOLECULAR FUNCTION gap junction channel activity; protein binding
ESSENTIAL IN MOUSE Essential
PATHWAYS R-HSA-190828; R-HSA-157858; R-HSA-190861; R-HSA-199991; R-HSA-5653656
7 combinations linked to GJB3 OLI192; OLI135; OLI194; OLI193; OLI136; OLI252; OLI406
4 variants linked to GJB3 GJB3:c.284C>T, ; GJB3:c.250G>A, p.Val84Ile; GJB3:c.497A>G, p.Asn166Ser; GJB3:c.580G>A, p.Ala194Thr
1 disease linked to GJB3 Non-syndromic genetic deafness

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