Disease-gene associations mined from literature

Literature associating EIF2S1 and dystonia 16

EIF2S1 [ENSP00000256383]

Eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa; Functions in the early steps of protein synthesis by forming a ternary complex with GTP and initiator tRNA. This complex binds to a 40S ribosomal subunit, followed by mRNA binding to form a 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 eIF-2 and release of an eIF-2- GDP binary complex. In order for eIF-2 to recycle and catalyze another round of initiation, the GDP bound to eIF-2 must exchange with GTP by way of a reaction catalyzed by eIF-2B.

Synonyms:  EIF2S1,  EIF2S1p,  hEIF2S1,  G3V4T5,  P05198 ...

Linkouts:  STRING  Pharos  UniProt  OMIM