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CLCN7 - chloride voltage-gated channel 7
- Synonym(s) : CLC7, CLC-7, ClC-7, OPTA2, PPP1R63, protein phosphatase 1, regulatory subunit 63
- Previous symbols and names : Chloride channel 7, chloride channel 7, chloride channel, voltage-sensitive 7
- Type : gene with protein product
- Chromosomal location : 16p13.3
- OMIM: 602727
- HGNC: 2025
- UniProtKB: P51798
- Genatlas: CLCN7
- GenCC: CLCN7
- Ensembl: ENSG00000103249
- IUPHAR-DB: 706
- Reactome: P51798
- LOVD: CLCN7
Diseases list
- Disease-causing germline mutation(s) in Albers-Schönberg osteopetrosis
ORPHA:53 
- Disease-causing germline mutation(s) in Autosomal recessive malignant osteopetrosis
ORPHA:667 - Disease-causing germline mutation(s) in Intermediate osteopetrosis
ORPHA:210110
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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