NALCN Antibody

1. 9-year-old male with a homozygous nonsense mutation in NALCN (c.3910C>T, p.Arg1304X) leading to profound intellectual disability, seizures, feeding difficulties, and significant periodic breathing. PMID: 29968795
2. NALCN variant is associated with neurodevelopmental diseases. PMID: 30167850
3. UNC80 bridges between UNC79 and the cation channel NALCN. PMID: 26545877
4. Study identified a de novo missense mutation in NALCN, c.1768C>T, in an infant with a severe neonatal lethal form of the recently characterized congenital contractures of the limbs and face with hypotonia and developmental delay. Clinical phenotype and electrophysiologic studies show sustained muscular contraction in response to transient sensory stimuli. PMID: 27558372
5. The present data support previous work suggesting heterozygous NALCN mutations lead to syndromic neurodevelopmental impairment. PMID: 26763878
6. Two patients with novel mutations (p.F317C and p.V595F) and distal arthrogryposis and central hypertonicity are described. PMID: 27214504
7. Our patients broaden the clinical spectrum associated with recessive mutations in NALCN, featuring also disrupted respiratory rhythm mimicking homozygous Nalcn knockout mice. PMID: 26923739
8. Ohmic leak currents were identified in freshly isolated and cultured myometrial smooth muscle cells. NALCN contributes to this current. Uterine biopsies from term, non-laboring women revealed NALCN messenger RNA and protein expression in the myometrium. PMID: 26134120
9. UNC80 encodes a large protein that is necessary for the stability and function of NALCN and for bridging NALCN to UNC79 to form a functional complex PMID: 26708753
10. We used exome and targeted next-generation sequencing to identify de novo mutations in NALCN as the cause of a newly delineated condition, CLIFAHDD syndrome. PMID: 25683120
11. This study found a plausible association, though not statistically confirmed, of cervical dystonia with SNPs in the NALCN region. PMID: 24227479
12. NALCN is the gene responsible for INAD with facial dysmorphism PMID: 23749988
13. Two mutations, one missense and one nonsense, in NALCN in two unrelated families. PMID: 24075186
14. This study observed nominal association with rs9518320 and rs9518331, suggesting that NALCN is not related to schizophrenia risk. PMID: 20674038
15. Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator) PMID: 20889312
16. Observational study of gene-disease association. (HuGE Navigator) PMID: 20674038
17. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) PMID: 20379614
18. UNC80 functions as a scaffold for Src kinases in NALCN channel function. PMID: 19535918
19. Data show the molecular basis of a muscarinic-activated inward sodium current that is independent of G-protein activation, and provide new insights into the properties of NALCN channels. PMID: 19575010
20. Observational study of gene-disease association. (HuGE Navigator) PMID: 19308021

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HGNC: 19082

OMIM: 611549

KEGG: hsa:259232

STRING: 9606.ENSP00000251127

UniGene: Hs.525146