Gene Symbol | EIF2B3 |
Entrez Gene ID | 8891 |
Full Name | eukaryotic translation initiation factor 2B subunit gamma |
Synonyms | EIF-2B,EIF2Bgamma |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene is one of the subunits of initiation factor eIF2B, which catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP. It has also been found to function as a cofactor of hepatitis C virus internal ribosome entry site-mediated translation. Mutations in this gene have been associated with leukodystrophy with vanishing white matter. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]. |
Disorder MIM: | |
Disorder Html: | Leukoencephalopathy with vanishing white matter, 603896 (3) |