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: 4744
MIM: 162230
HGNC: 7737
Ensembl: ENSG00000100285
Variants:
dbSNP: 4744
ClinVar: 4744
TCGA: ENSG00000100285
COSMIC: NEFH
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000100285 | ENST00000310624 | P12036 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Amyotrophic lateral sclerosis (ALS) | KEGG | ko05014 |
| Amyotrophic lateral sclerosis (ALS) | KEGG | hsa05014 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36200879 | 2023 | Neurodegeneration Markers in the Cerebrospinal Fluid of 100 Patients with Schizophrenia Spectrum Disorder. | 2 |
| 36200879 | 2023 | Neurodegeneration Markers in the Cerebrospinal Fluid of 100 Patients with Schizophrenia Spectrum Disorder. | 2 |
| 34518334 | 2022 | Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype. | 6 |
| 35091664 | 2022 | An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese families. | 3 |
| 36042248 | 2022 | Intronic NEFH variant is associated with reduced risk for sporadic ALS and later age of disease onset. | 3 |
| 34518334 | 2022 | Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype. | 6 |
| 35091664 | 2022 | An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese families. | 3 |
| 36042248 | 2022 | Intronic NEFH variant is associated with reduced risk for sporadic ALS and later age of disease onset. | 3 |
| 32780247 | 2021 | A novel missense pathogenic variant in NEFH causing rare Charcot-Marie-Tooth neuropathy type 2CC. | 5 |
| 33609080 | 2021 | Diagnostic and prognostic value of CSF neurofilaments in a cohort of patients with motor neuron disease: A cross-sectional study. | 7 |
| 33895854 | 2021 | Myelin basic protein and neurofilament H in postmortem cerebrospinal fluid as surrogate markers of fatal traumatic brain injury. | 6 |
| 32780247 | 2021 | A novel missense pathogenic variant in NEFH causing rare Charcot-Marie-Tooth neuropathy type 2CC. | 5 |
| 33609080 | 2021 | Diagnostic and prognostic value of CSF neurofilaments in a cohort of patients with motor neuron disease: A cross-sectional study. | 7 |
| 33895854 | 2021 | Myelin basic protein and neurofilament H in postmortem cerebrospinal fluid as surrogate markers of fatal traumatic brain injury. | 6 |
| 33020509 | 2020 | Novel 199 base pair NEFH promoter drives expression in retinal ganglion cells. | 4 |
Citation
Dessen P
NEFH (neurofilament heavy chain)
Atlas Genet Cytogenet Oncol Haematol. 2010-10-01
Online version: http://atlasgeneticsoncology.org/gene/51698/nefh-(neurofilament-heavy-chain)
