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 |