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EIF2B2 - eukaryotic translation initiation factor 2B subunit beta
- Synonym(s) : EIF2B, EIF-2Bbeta
- Previous symbols and names : eukaryotic translation initiation factor 2B, subunit 2 (beta, 39kD), eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
- Type : gene with protein product
- Chromosomal location : 14q24.3
- OMIM: 606454
- HGNC: 3258
- UniProtKB: P49770
- Genatlas: EIF2B2
- GenCC: EIF2B2
- Ensembl: ENSG00000119718
- IUPHAR-DB: -
- Reactome: P49770
- LOVD: EIF2B2
Diseases list
- Disease-causing germline mutation(s) in Congenital or early infantile CACH syndrome
ORPHA:157713 
- Disease-causing germline mutation(s) in Cree leukoencephalopathy
ORPHA:99854 - Disease-causing germline mutation(s) in Juvenile or adult CACH syndrome
ORPHA:157719 - Disease-causing germline mutation(s) in Late infantile CACH syndrome
ORPHA:157716 - Disease-causing germline mutation(s) in Ovarioleukodystrophy
ORPHA:99853
: AssessedAdditional information
Patient-centred resources for this gene
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