Gene: NALCN

Alternate names for this Gene: CLIFAHDD|CanIon|IHPRF|IHPRF1|INNFD|VGCNL1|bA430M15.1

Gene 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.

Gene is located in Chromosome: 13

Location in Chromosome : 13q32.3-q33.1

Description of this Gene: sodium leak channel, non-selective

Type of Gene: protein-coding

rs7996217 in NALCN gene and AIDS Dementia Complex PMID 22628157 2012 Genome-wide association study of neurocognitive impairment and dementia in HIV-infected adults.

rs869312873 in NALCN gene and Abnormal pattern of respiration PMID 26923739 2016 A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm.

rs621332 in NALCN gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs17621578 in NALCN gene and Arthritis, Gouty PMID 25676789 2015 Genome-wide association study identifies ABCG2 (BCRP) as an allopurinol transporter and a determinant of drug response.

rs1057516040 in NALCN gene and Arthrogryposis-like hand anomaly PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1057516040 in NALCN gene and CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

PMID 25683120 2015 De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.

rs869312873 in NALCN gene and Cachexia PMID 26923739 2016 A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm.

rs1057516040 in NALCN gene and Chin with horizontal crease PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1057516040 in NALCN gene and Generalized hypotonia PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs17621578 in NALCN gene and Gout PMID 25676789 2015 Genome-wide association study identifies ABCG2 (BCRP) as an allopurinol transporter and a determinant of drug response.

rs587777068 in NALCN gene and HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 PMID 24075186 2013 Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay.

PMID 23749988 2013 Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism.

rs1158141270 in NALCN gene and Muscle hypotonia PMID 27214504 2016 Novel Mutations in the Nonselective Sodium Leak Channel (NALCN) Lead to Distal Arthrogryposis with Increased Muscle Tone.

PMID 27473021 2016 Muscle biopsy findings in a child with NALCN gene mutation.

PMID 23749988 2013 Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism.

PMID 24075186 2013 Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay.

PMID 27633718 2016 A de novo mutation in the NALCN gene in an adult patient with cerebellar ataxia associated with intellectual disability and arthrogryposis.

PMID 26923739 2016 A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm.

PMID 27558372 2016 NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutations.

PMID 25683120 2015 De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.

PMID 28133733 2017 Additional de novo missense genetic variants in NALCN associated with CLIFAHDD syndrome.

rs1057516040 in NALCN gene and Overfolded helix PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1057516040 in NALCN gene and Retrognathia PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs621332 in NALCN gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs869312873 in NALCN gene and Seizures PMID 26923739 2016 A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm.

rs869312873 in NALCN gene and Severe intellectual disability PMID 26923739 2016 A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm.

rs1057516040 in NALCN gene and Sleep Apnea, Central PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs869312873 in NALCN gene and Strabismus PMID 26923739 2016 A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm.

rs17621578 in NALCN gene and Uric acid measurement (procedure) PMID 25676789 2015 Genome-wide association study identifies ABCG2 (BCRP) as an allopurinol transporter and a determinant of drug response.