EIF2B2 wt Allele

Preferred Label : EIF2B2 wt Allele;

NCIt synonyms : EIF2BB; EIF2B; Eukaryotic Translation Initiation Factor 2B, Subunit 2 Beta, 39kDa wt Allele; EIF-2Bbeta;

NCIt definition : Human EIF2B2 wild-type allele is located in the vicinity of 14q24.3 and is approximately 7 kb in length. This allele, which encodes translation initiation factor eIF-2B subunit beta protein, plays a role in the modulation of translation. Mutations in the gene are linked to both leukoencephalopathy with vanishing white matter and ovarioleukodystrophy.;

GenBank Accession Number : NM_014239;

Details

Origin ID

C53135;

UMLS CUI

C1705451;

Automatic exact mappings (from CISMeF team)
- Eukaryotic translation initiation factor 2b, subunit 2 [OMIM gene]
- eukaryotic initiation Factor-2B [MeSH Descriptor]
- eukaryotic initiation Factor-2B [MeSH concept]
- eukaryotic translation initiation factor 2B complex [GO term]
- eukaryotic translation initiation factor 2B subunit alpha [ORDO Gene]
- eukaryotic translation initiation factor 2B subunit beta [ORDO Gene]
- eukaryotic translation initiation factor 2B subunit delta [ORDO Gene]
- eukaryotic translation initiation factor 2B subunit epsilon [ORDO Gene]
- eukaryotic translation initiation factor 2B subunit gamma [ORDO Gene]
OMIM relation
- Eukaryotic translation initiation factor 2b, subunit 2 [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
- 14: 74539401-74546045 [NCIt concept]
gene_in_chromosomal_location
- 14q24.3 [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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