EIF2B4 wt Allele

Preferred Label : EIF2B4 wt Allele;

NCIt synonyms : Eukaryotic Translation Initiation Factor 2B, Subunit 4 Delta, 67kDa wt Allele; EIF2BD; EIF2Bdelta; DKFZP586J0119;

NCIt definition : Human EIF2B4 wild-type allele is located in the vicinity of 12p23.3 and is approximately 6 kb in length. This allele, which encodes translation initiation factor eIF-2B subunit delta protein, is involved in the progression of translation. Mutations in the gene are linked to both leukoencephalopathy with vanishing white matter and ovarioleukodystrophy.;

GenBank Accession Number : NM_015636;

Details

Origin ID

C53136;

UMLS CUI

C1707845;

Automatic exact mappings (from CISMeF team)
- Eukaryotic translation initiation factor 2b, subunit 4 [OMIM gene]
- eukaryotic initiation Factor-2B [MeSH Descriptor]
- eukaryotic translation initiation factor 2B subunit delta [ORDO Gene]
OMIM relation
- Eukaryotic translation initiation factor 2b, subunit 4 [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
- 2: 27504851-27498881 [NCIt concept]
gene_in_chromosomal_location
- 2p23.3 [NCIt concept]
gene_is_element_in_pathway
- Skeletal Muscle Hypertrophy Pathway [NCIt concept]
- dsRNA Induction Pathway [NCIt concept]
- eIF2 Regulation Pathway [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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