| GENE NAME | NEFH |
| CHROMOSOME | 22 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000100285 |
| UNIPROT ACCESSION NUMBER | P12036 |
| GO MOLECULAR FUNCTION | ['structural constituent of cytoskeleton', 'protein-macromolecule adaptor activity', 'protein kinase binding', 'kinesin binding', 'microtubule binding', 'protein binding', 'structural constituent of postsynaptic intermediate filament cytoskeleton', 'dynein complex binding'] |
| ESSENTIAL IN MOUSE | Non-essential |
| PATHWAYS | hsa05014; hsa05022 |
| 6 combinations linked to NEFH | OLI1640; OLI1629; OLI828; OLI441; OLI436; OLI1704 |
| 6 variants linked to NEFH | NEFH:c.2570A>G, p.Lys917Glu; NEFH:c.1138G>A, p.Ala380Thr; NEFH:c.1514C>T, p.Pro505Leu; NEFH:c.883G>A, p.Val295Met; NEFH:c.1510_1530del, p.Pro504_Ala510del; NEFH:p.Pro933Ser |
| 1 disease linked to NEFH | Amyotrophic lateral sclerosis |