GENE NAME | CLCN7 |
CHROMOSOME | 16 |
ENSEMBL ID | ENSG00000103249 |
ENTREZ ID | 1186 |
UNIPROT ACCESSION NUMBER | P51798 |
GO MOLECULAR FUNCTION | protein binding; nucleotide binding; ATP binding; chloride channel activity; antiporter activity; chloride transmembrane transporter activity |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | R-HSA-382551; R-HSA-983712; R-HSA-2672351 |
1 combination linked to CLCN7 | OLI515 |
1 variant linked to CLCN7 | CLCN7:c.857G>C, p.Arg286Pro |
1 disease linked to CLCN7 | Osteopetrosis and related disorders |