Details for Gene CLCN3

GENE NAME CLCN3
CHROMOSOME 4
ENSEMBL ID None
ENTREZ ID ENSG00000109572
UNIPROT ACCESSION NUMBER P51790
GO MOLECULAR FUNCTION ['antiporter activity', 'solute:proton antiporter activity', 'voltage-gated chloride channel activity', 'PDZ domain binding', 'protein binding', 'volume-sensitive chloride channel activity', 'chloride channel activity', 'ATP binding']
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa04613; R-HSA-2672351; R-HSA-382551; R-HSA-983712
1 combination linked to CLCN3 OLI1707
1 variant linked to CLCN3 CLCN3:c.1952A>C, p.Asp651Ala
1 disease linked to CLCN3 Rare pervasive developmental disorder

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