EIF2B3 wt Allele

Preferred Label : EIF2B3 wt Allele;

NCIt synonyms : Eukaryotic Translation Initiation Factor 2B, Subunit 3 Gamma, 58kDa Gene; Eukaryotic Translation Initiation Factor 2B, Subunit 3 Gene; Translation Initiation Factor EIF-2B Subunit Gamma Gene; EIF2Bgamma; Eukaryotic Translation Initiation Factor 2B, Subunit 3 (Gamma, 58kD) Gene; EIF-2B GDP-GTP Exchange Factor Subunit Gamma Gene; EIF-2B; Eukaryotic Translation Initiation Factor 2B, Gamma Gene; VWM3; Eukaryotic Translation Initiation Factor 2B Subunit Gamma wt Allele;

NCIt definition : Human EIF2B3 wild-type allele is located in the vicinity of 1p34.1 and is approximately 136 kb in length. This allele, which encodes translation initiation factor eIF2B subunit gamma protein, plays a role in guanyl-nucleotide exchange activity that regulates translation initiation. Mutations in the gene are associated with leukoencephalopathy with vanishing white matter 3, with or without ovarian failure.;

GenBank Accession Number : AF257077;

Details

Origin ID

C216108;

OMIM relation
- Eukaryotic translation initiation factor 2b, subunit 3 [OMIM gene]
gene_associated_with_disease
- Leukoencephalopathy [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 1p34.1 [NCIt concept]
gene_plays_role_in_process
- Protein-Protein Interaction [NCIt concept]
- Translation Initiation [NCIt concept]
- Translation Process [NCIt concept]

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