Eukaryotic Translation Initiation Factor 2B, Subunit 5

Alternative Names

EIF2B5
Eukaryotic Translation Initiation Factor 2B, Epsilon
EIF2B-Epsilon

Length

11,693 bases

No. of Exons

No. of isoforms

Protein Name

Translation initiation factor eIF-2B subunit epsilon

Molecular Mass

80380 Da

Amino Acid Count

721

Genomic Location

chr3:184,134,435-184,146,127

Gene Map Locus

3q27.1

Description

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. [From RefSeq]

Epidemiology in the Arab World

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Lebanon

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_003907.3:c.407G>A	Lebanon	chr3:184137706	Pathogenic	Pathogenic	Leukoencephalopathy with Vanishing White Matter	NG_015826.1:g.7685G>A; NM_003907.3:c.407G>A; NP_003898.2:p.Arg136His	958193703	802032

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External Links

https://ghr.nlm.nih.gov/gene/EIF2B5 https://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF2B5 https://www.ncbi.nlm.nih.gov/gene?term=8893

Contributors

Pratibha Nair: 21.04.2020

Edit History

Pratibha Nair: 21.04.2020

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