Details for Gene GJA4

GENE NAME GJA4
CHROMOSOME 1
ENSEMBL ID ENSG00000187513
ENTREZ ID 2701
UNIPROT ACCESSION NUMBER P35212
GO MOLECULAR FUNCTION gap junction channel activity; protein binding
ESSENTIAL IN MOUSE Non-essential
PATHWAYS R-HSA-157858; R-HSA-190861; R-HSA-199991; R-HSA-5653656; R-HSA-190828
2 combinations linked to GJA4 OLI1002; OLI996
1 variant linked to GJA4 GJA4:c.727C>T, p.Arg243Trp
2 diseases linked to GJA4 Androgen insensitivity syndrome; 46,XY disorder of sex development

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