EIF2S3
Developmental stage
Expressed in the developing endocrine organs.
Function
Member of the eIF2 complex that functions in the early steps of protein synthesis by forming a ternary complex with GTP and initiator tRNA (PubMed:31836389). This complex binds to a 40S ribosomal subunit, followed by mRNA binding to form the 43S pre-initiation complex (43S PIC) (By similarity). Junction of the 60S ribosomal subunit to form the 80S initiation complex is preceded by hydrolysis of the GTP bound to eIF2 and release of an eIF2-GDP binary complex (By similarity). In order for eIF2 to recycle and catalyze another round of initiation, the GDP bound to eIF2 must exchange with GTP by way of a reaction catalyzed by eIF-2B (By similarity).
Involvement in disease
MEHMO syndrome
MEHMO
An X-linked recessive syndrome characterized by intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity.
None
The disease is caused by variants affecting the gene represented in this entry.
Defects in EIF2S3 are the cause of hypopituitarism with glucose dysregulation.
Sequence Similarities
Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. EIF2G subfamily.
Tissue Specificity
Expressed in testis, brain, liver and muscle.
Cellular localization
- Cytoplasm
- Cytosol
Alternative names
EIF2G, EIF2S3, Eukaryotic translation initiation factor 2 subunit 3, Eukaryotic translation initiation factor 2 subunit gamma X, eIF2-gamma X, eIF2gX