EIF2B2

Chr 14

eukaryotic translation initiation factor 2B subunit beta

Also known as: EIF-2Bbeta, EIF2B, EIF2Bbeta, VWM2

NCBI Gene: 8892 ENSG00000119718 UniProt: P49770

The protein encodes the beta subunit of eukaryotic initiation factor-2B (EIF2B), which regulates protein synthesis by mediating GDP-GTP exchange for activation and deactivation of the translation initiation complex. Biallelic mutations cause leukoencephalopathy with vanishing white matter, an autosomal recessive disorder characterized by progressive white matter degeneration that can be associated with ovarian failure in females. The disease results from loss of EIF2B function, which disrupts cellular protein synthesis regulation particularly under stress conditions.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes the beta subunit of eukaryotic initiation factor-2B (EIF2B). EIF2B is involved in protein synthesis and exchanges GDP and GTP for its activation and deactivation. [provided by RefSeq, Aug 2011]

ResearchGenerating clinical summary…

LOEUF 1.52

Clinical Summary— EIF2B2

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Gene-Disease Validity (ClinGen)

leukoencephalopathy with vanishing white matter 2 · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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