Details for Gene CLCN7

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

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