Neurofilament Heavy Polypeptide

Preferred Label : Neurofilament Heavy Polypeptide;

NCIt synonyms : 200 kDa Neurofilament Protein; Neurofilament Triplet H Protein; Neurofilament-H; NF-H; NEFH;

NCIt definition : Neurofilament heavy polypeptide (1026 aa, 112 kDa) is encoded by the human NEFH gene. This protein plays a role in both the establishment and maintenance of axonal and dendritic structures.;

Details

Origin ID

C88040;

UMLS CUI

C1505576;

Automatic exact mappings (from CISMeF team)
- Neurofilament protein, heavy polypeptide [OMIM gene]
- No family history of (contextual qualifier) (qualifier value) [SNOMED CT concept]
- neurofilament heavy chain [ORDO Gene]
OMIM relation
- Neurofilament protein, heavy polypeptide [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
UMLS correspondences (same concept)
- NEFH protein, human [MeSH concept]
gene_encodes_gene_product
- Cytoskeletal Gene [NCIt concept]
- Intermediate Filament Gene [NCIt concept]
- NEFH Gene [NCIt concept]
- Structural Protein Gene [NCIt concept]
gene_product_has_associated_anatomy
- Cytoskeleton [NCIt concept]
- Intermediate Filament [NCIt concept]
- Neurofilament [NCIt concept]
gene_product_has_biochemical_function
- Scaffolding Protein [NCIt concept]
gene_product_malfunction_associated_with_disease
- Amyotrophic Lateral Sclerosis [NCIt concept]
gene_product_plays_role_in_biological_process
- Cell Movement Process [NCIt concept]
- Cytoskeletal Process [NCIt concept]
- Regulation of Cell Shape [NCIt concept]

Keyword's position in hierarchy(ies) :

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