Eukaryotic Translation Initiation Factor 2B, Subunit 2

Alternative Names

  • EIF2B2
  • Eukaryotic Translation Initiation Factor 2B, Beta
  • EIF2B-BETA
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OMIM Number

606454

Gene Map Locus
14q24.3

Description

The EIF2B2 gene, located on chromosome 14q24.3, encodes the beta subunit of the eIF2B protein.  EIF2B interacts with the eIF2 protein to regulate protein synthesis in the cell, and it catalyzes the exchanges of GDP and GTP for its activation and deactivation.  Defects in this protein have been associated with leukodystrophy with vanishing white matter (VWM), characterized by spasticity, progressive cerebellar ataxia, and inconstant optic atrophy.  

Molecular Genetics

The EIF2B2 gene has eight coding exons, spanning approximately 10 kb within the genomic DNA.  The encoded protein comprises 351 amino acids with a molecular mass of 38.990 kDa.  Mutations in the EIF2B2 gene are the cause of about 60-70% of all cases of leukoencephalopathy with vanishing white matter.  The Arg113His mutation is the most common and is usually found in patients with the adult-onset form.  

Epidemiology in the Arab World

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Other Reports

Saudi Arabia

Alsalem et al. (2012) described a three and a half year-old Saudi girl with leukodystrophy with vanishing white matter disease.  Her birth weight was low (2.15 kg), and she had poor feeding.  She presented at the age of 10 months with hypotonia and failure to thrive.  She had recurrent episodes of hypoglycemia, and her ACTH and cortisol were low. Brain MRI revealed diffused white matter changes.  She had some dysmorphic features including; saggy cheeks, deep set eyes, and microganthia.  Performing homozygosity mapping and direct sequencing of the EIF2B2 gene, a homozygous novel missense mutation (c.803G>A) was identified in the affected girl.   This mutation resulted in a substitution of a highly conserved amino acid residue (C268Y) that affects the protein secondary structure conformation.  

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