Details for Gene NEFH

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; OLI441; OLI436; OLI1704; OLI828
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

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