EIF2S3 gene

eukaryotic translation initiation factor 2 subunit gamma

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. [provided by RefSeq, Jan 2010]

From UniProt:

As a subunit of eukaryotic initiation factor 2 (eIF2), involved in the early steps of protein synthesis. In the presence of GTP, eIF2 forms a ternary complex with initiator tRNA Met-tRNAi and then recruits the 40S ribosomal complex, a step that determines the rate of protein translation. This step is followed by mRNA binding to form the 43S pre-initiation complex. 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. 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 eIF2B (By similarity). Along with its paralog on chromosome Y, may contribute to spermatogenesis up to the round spermatid stage.

From NCBI Gene:

  • MENTAL RETARDATION, X-LINKED, SYNDROMIC, BORCK TYPE

From UniProt:

Mental retardation, X-linked, syndromic, Borck type (MRXSBRK): A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSBRK patients manifest global developmental delay, short stature, microcephaly, poor or absent speech, and dysmorphic facial features. Additional features are growth hormone deficiency, hypogonadism, and spasticity resulting in difficulty walking or inability to walk. Thin corpus callosum and reduced white matter volume are observed on brain imaging. Inheritance is X-linked recessive. [MIM:300987]

Cytogenetic Location: Xp22.11, which is the short (p) arm of the X chromosome at position 22.11

Molecular Location: base pairs 24,054,948 to 24,078,810 on the X chromosome (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: Xp22.11, which is the short (p) arm of the X chromosome at position 22.11
  • eIF-2gA
  • EIF2
  • EIF2G
  • EIF2gamma
  • MRXSBRK