Target intelligence / Profile preview

Eukaryotic translation initiation factor 2 subunit gamma (EIF2S3)

Target
EIF2S3
Molecular classification
Translation initiation factor, GTP-binding protein, Protein complex subunit, Other
01

Overview

Eukaryotic translation initiation factor 2 subunit gamma (EIF2S3) is the largest subunit of the eIF2 complex, a heterotrimeric GTP-binding protein essential in the early steps of eukaryotic protein synthesis. It facilitates the recruitment of the initiator methionyl-tRNA and GTP to the 40S ribosomal subunit, forming the ternary complex, and helps assemble the 43S pre-initiation complex. Perturbations in EIF2S3 function are linked to human diseases such as MEHMO syndrome and neonatal diabetes mellitus, highlighting its role in translation control and cellular homeostasis[1][2][5].

Other names
EIF2gammaEIF2GEIF2Eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDaEukaryotic translation initiation factor 2 subunit gamma XEukaryotic translation initiation factor 2 subunit 3Eukaryotic translation initiation factor 2GEIF2-Gamma XeIF2γeIF2-gamma XeIF2gXMEHMOMRXSBRKeIF-2gAmental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly and obesity syndrome
02

Biological functions

Protein synthesis initiationRecruitment of initiator tRNA to ribosomeGTP binding and hydrolysisPeptide chain elongation (indirectly)
03

Disease associations

Diabetes mellitus (neonatal diabetes mellitus)Neurodevelopmental disease (MEHMO syndrome)Other
04

Safety considerations

Loss of function or mutation can cause syndromic intellectual disability, seizures, endocrine and metabolic abnormalities
05

Biomarkers

MEHMO syndrome (gene mutation as diagnostic marker)Neonatal diabetes (gene variant)

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