Gene: EIF2S3

Alternate names for this Gene: EIF2|EIF2G|EIF2gamma|MEHMO|MRXSBRK|eIF-2gA

Gene Summary: The protein encoded by this gene is the largest subunit of a heterotrimeric GTP-binding protein involved in the recruitment of methionyl-tRNA(i) to the 40 S ribosomal subunit.

Gene is located in Chromosome: X

Location in Chromosome : Xp22.11

Description of this Gene: eukaryotic translation initiation factor 2 subunit gamma

Type of Gene: protein-coding

rs886040855 in EIF2S3 gene and MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY (disorder) PMID 27333055 2016 Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy.

PMID 23063529 2012 eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation.

PMID 28055140 2017 EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO.

rs5990018 in EIF2S3 gene and Triglycerides measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.