NEFH wt Allele

Preferred Label : NEFH wt Allele;

NCIt synonyms : NFH; Neurofilament, Heavy Polypeptide wt Allele; Neurofilament, Heavy Polypeptide 200 kDa Gene;

NCIt definition : Human NEFH wild-type allele is located in the vicinity of 22q12.2 and is approximately 11 kb in length. This allele, which encodes neurofilament heavy polypeptide protein, is involved in the modulation of the structure of neuronal processes. Mutations in the gene are associated with greater susceptibility to amyotrophic lateral sclerosis.;

GenBank Accession Number : NM_021076;

Details

Origin ID

C88039;

UMLS CUI

C2981618;

OMIM relation
- Neurofilament protein, heavy polypeptide [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_associated_with_disease
- Amyotrophic Lateral Sclerosis [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 22q12.2 [NCIt concept]
gene_plays_role_in_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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