Gene Symbol | EIF2B5 |
Entrez Gene ID | 8893 |
Full Name | eukaryotic translation initiation factor 2B subunit epsilon |
Synonyms | CACH,CLE,EIF-2B,EIF2Bepsilon,LVWM |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes one of five subunits of eukaryotic translation initiation factor 2B (EIF2B), a GTP exchange factor for eukaryotic initiation factor 2 and an essential regulator for protein synthesis. Mutations in this gene and the genes encoding other EIF2B subunits have been associated with leukoencephalopathy with vanishing white matter. [provided by RefSeq, Nov 2009]. |
Disorder MIM: | |
Disorder Html: | Leukoencephalopathy with vanishing white matter, 603896 (3); Ovarioleukodystrophy, 603896 (3) |