NALCN Chromosome 13
Sodium leak channel, non-selective
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What This Gene Does
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]
Gene Info
Gene Group
"Sodium leak channels, non selective|NALCN channel complex subunits"
Locus Type
gene with protein product
Location
13q32.3-q33.1
Ensembl
ENSG00000102452
Associated Conditions (23)
Autism spectrum disorder
NALCN-related disorder
Hypotonia
infantile
with psychomotor retardation and characteristic facies 1
Congenital contractures of the limbs and face
hypotonia
and developmental delay
Inborn genetic diseases
Developmental disorder
See cases
Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1
Abnormality of the nervous system
Neurodevelopmental disorder
Intellectual disability
Seizure
Cachexia
Severe intellectual disability
Abnormal pattern of respiration
+3 more conditions
Key Variants
RS2045687348
association
Autism spectrum disorder, Autism spectrum disorder
Health Risk
RS1064794722
Conflicting classifications of pathogenicity
Health Risk
RS111638537
Conflicting classifications of pathogenicity
NALCN-related disorder, NALCN-related disorder
Health Risk
RS145910377
Conflicting classifications of pathogenicity
Health Risk
RS1463184766
Conflicting classifications of pathogenicity
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1
Health Risk
RS147070169
Conflicting classifications of pathogenicity
Congenital contractures of the limbs and face, hypotonia, and developmental delay
Health Risk
RS149203278
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS149644813
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS150705692
Conflicting classifications of pathogenicity
Health Risk
RS1555381108
Conflicting classifications of pathogenicity
Congenital contractures of the limbs and face, hypotonia, and developmental delay
Health Risk
RS200510423
Conflicting classifications of pathogenicity
Congenital contractures of the limbs and face, hypotonia, and developmental delay
Health Risk
RS201506269
Conflicting classifications of pathogenicity
Health Risk
All Variants (159)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1594368726 | Health Risk | Pathogenic/Likely pathogenic | Congenital contractures of the limbs and face, hypotonia, and developmental delay |
| RS1594759803 | Health Risk | Pathogenic/Likely pathogenic | Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 |
| RS2033787523 | Health Risk | Pathogenic/Likely pathogenic | Congenital contractures of the limbs and face, hypotonia, and developmental delay |
| RS2041614157 | Health Risk | Pathogenic/Likely pathogenic | Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 |
| RS2139519168 | Health Risk | Pathogenic/Likely pathogenic | Congenital contractures of the limbs and face, hypotonia, and developmental delay |
| RS2548588794 | Health Risk | Pathogenic/Likely pathogenic | Congenital contractures of the limbs and face, hypotonia, and developmental delay |
| RS541633673 | Health Risk | Pathogenic/Likely pathogenic | See cases, Congenital contractures of the limbs and face, hypotonia |
| RS786201003 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability with episodic ataxia and congenital arthrogryposis, Congenital contractures of the limbs and face, hypotonia |
| RS786203988 | Health Risk | Pathogenic/Likely pathogenic | Congenital contractures of the limbs and face, hypotonia, and developmental delay |