CLCN6 chloride voltage-gated channel 6
Gene ID: 1185, updated on 2-Nov-2024Gene type: protein coding
Also known as: CLC-6; CONRIBA
- See all available tests in GTR for this gene
- Go to complete Gene record for CLCN6
- Go to Variation Viewer for CLCN6 variants
Summary
This gene encodes a member of the voltage-dependent chloride channel protein family. Members of this family can function as either chloride channels or antiporters. This protein is primarily localized to late endosomes and functions as a chloride/proton antiporter. Alternate splicing results in both coding and non-coding variants. Additional alternately spliced variants have been described but their full-length structure is unknown. [provided by RefSeq, Mar 2012]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association analysis and fine mapping of NT-proBNP level provide novel insight into the role of the MTHFR-CLCN6-NPPA-NPPB gene cluster. GeneReviews: Not available | |
| Genome-wide association study identifies eight loci associated with blood pressure. GeneReviews: Not available | |
| Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities | See labs |
Genomic context
- Location:
- 1p36.22
- Sequence:
- Chromosome: 1; NC_000001.11 (11806191..11843130)
- Total number of exons:
- 23
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CLCN6 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- Neuronal Ceroid Lipofuscinoses; NCL Mutations
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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