NALCN sodium leak channel, non-selective
Gene ID: 259232, updated on 3-Apr-2024Gene type: protein coding
Also known as: IHPRF; INNFD; CanIon; IHPRF1; VGCNL1; CLIFAHDD; bA430M15.1
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- Go to complete Gene record for NALCN
- Go to Variation Viewer for NALCN variants
Summary
This gene encodes a voltage-independent, nonselective cation channel which belongs to a family of voltage-gated sodium and calcium channels that regulates the resting membrane potential and excitability of neurons. This family is expressed throughout the nervous system and conducts a persistent sodium leak current that contributes to tonic neuronal excitability. The encoded protein forms a channelosome complex that includes G-protein-coupled receptors, UNC-79, UNC-80, NCA localization factor-1, and src family tyrosine kinases. Naturally occurring mutations in this gene are associated with infantile neuroaxonal dystrophy, infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) syndrome, and congenital contractures of the limbs and face with hypotonia and developmental delay (CLIFAHDD) syndrome. A knockout of the orthologous gene in mice results in paralysis with a severely disrupted respiratory rhythm, and lethality within 24 hours after birth. [provided by RefSeq, Apr 2017]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. GeneReviews: Not available | |
| Congenital contractures of the limbs and face, hypotonia, and developmental delay | See labs |
| Genome-wide association study of atypical psychosis. GeneReviews: Not available | |
| Genome-wide association study of neurocognitive impairment and dementia in HIV-infected adults. GeneReviews: Not available | |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | See labs |
| Prognostic implications of genetic variants in advanced non-small cell lung cancer: a genome-wide association study. GeneReviews: Not available |
Genomic context
- Location:
- 13q32.3-q33.1
- Sequence:
- Chromosome: 13; NC_000013.11 (101053776..101417179, complement)
- Total number of exons:
- 48
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for NALCN 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
- 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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