EIF2B1 wt Allele

Preferred Label : EIF2B1 wt Allele;

NCIt synonyms : Eukaryotic Translation Initiation Factor 2B, Subunit 1 Alpha, 26kDa wt Allele; EIF2BA; EIF-2Balpha;

NCIt definition : Human EIF2B1 wild-type allele is located in the vicinity of 12q24.31 and is approximately 13 kb in length. This allele, which encodes translation initiation factor eIF-2B subunit alpha protein, is involved in the regulation of protein elongation. Point mutations in the gene are linked to leukoencephalopathy with vanishing white matter.;

GenBank Accession Number : NM_001414;

Details

Origin ID

C53134;

UMLS CUI

C1705450;

OMIM relation
- Eukaryotic translation initiation factor 2b, subunit 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_associated_with_disease
- Leukoencephalopathy [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 12: 122642993-122630453 [NCIt concept]
gene_in_chromosomal_location
- 12q24.31 [NCIt concept]
gene_plays_role_in_process
- Protein-Protein Interaction [NCIt concept]
- Translation Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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