EIF2B5 wt Allele

Preferred Label : EIF2B5 wt Allele;

NCIt synonyms : CACH; CLE; EIF2BE; LVWM; Eukaryotic Translation Initiation Factor 2B, Subunit 5 Epsilon, 82kDa wt Allele; EIF2Bepsilon;

NCIt definition : Human EIF2B5 wild-type allele is located in the vicinity of 3q27.1 and is approximately 10 kb in length. This allele, which encodes translation initiation factor eIF-2B subunit epsilon protein, is involved in the regulation of messenger RNA translation. Genetic mutations in the allele are linked to Cree leukoencephalopathy, leukoencephalopathy with vanishing white matter and ovarioleukodystrophy.;

GenBank Accession Number : NM_003907;

Details

Origin ID

C53139;

UMLS CUI

C1705452;

OMIM relation
- Eukaryotic translation initiation factor 2b, subunit 5 [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
- 3: 185335826-185345798 [NCIt concept]
gene_in_chromosomal_location
- 3q27.1 [NCIt concept]
gene_is_element_in_pathway
- Angiogenesis Pathway [NCIt concept]
- Skeletal Muscle Hypertrophy 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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