Identity
HGNC
LOCATION
1q32.1
LOCUSID
ALIAS
NEDCPMD,NF,NRCAML
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 23114
MIM: 609145
HGNC: 29866
Ensembl: ENSG00000163531
Variants:
dbSNP: 23114
ClinVar: 23114
TCGA: ENSG00000163531
COSMIC: NFASC
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 31945734 | 2020 | Case report of two children with auditory neuropathy spectrum disorder related to a neurofascin (NFASC) gene variant. | 0 |
| 31945734 | 2020 | Case report of two children with auditory neuropathy spectrum disorder related to a neurofascin (NFASC) gene variant. | 0 |
| 30850329 | 2019 | Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathy. | 14 |
| 31501903 | 2019 | Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination. | 22 |
| 30850329 | 2019 | Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathy. | 14 |
| 31501903 | 2019 | Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination. | 22 |
| 30124836 | 2018 | Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia. | 15 |
| 30124836 | 2018 | Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia. | 15 |
| 28418179 | 2017 | Copy number variation, increased gene expression, and molecular mechanisms of neurofascin in lung cancer. | 11 |
| 28575198 | 2017 | Autoantibodies to nodal isoforms of neurofascin in chronic inflammatory demyelinating polyneuropathy. | 62 |
| 28418179 | 2017 | Copy number variation, increased gene expression, and molecular mechanisms of neurofascin in lung cancer. | 11 |
| 28575198 | 2017 | Autoantibodies to nodal isoforms of neurofascin in chronic inflammatory demyelinating polyneuropathy. | 62 |
| 26843559 | 2016 | Neurofascin-155 IgG4 in chronic inflammatory demyelinating polyneuropathy. | 86 |
| 26843559 | 2016 | Neurofascin-155 IgG4 in chronic inflammatory demyelinating polyneuropathy. | 86 |
| 24523485 | 2014 | Neurofascin IgG4 antibodies in CIDP associate with disabling tremor and poor response to IVIg. | 109 |
Citation
Dessen P
NFASC (neurofascin)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/54499/nfasc-(neurofascin)
