Details for Gene KCNQ4

GENE NAME KCNQ4
CHROMOSOME 1
ENSEMBL ID ENSG00000117013
ENTREZ ID 9132
UNIPROT ACCESSION NUMBER P56696
GO MOLECULAR FUNCTION delayed rectifier potassium channel activity; protein binding; voltage-gated potassium channel activity; potassium channel activity; calmodulin binding
ESSENTIAL IN MOUSE Non-essential
PATHWAYS hsa04725; R-HSA-1296071; R-HSA-1296072; R-HSA-112316
2 combinations linked to KCNQ4 OLI1101; OLI1100
1 variant linked to KCNQ4 KCNQ4:c.1672G>A, p.Val558Met
1 disease linked to KCNQ4 Rare genetic deafness

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