DISEASES

Disease-gene associations mined from literature

Literature associating GSPT2 and syndromic X-linked intellectual disability Turner type

GSPT2 [ENSP00000341247]

Eukaryotic peptide chain release factor GTP-binding subunit ERF3B; Involved in translation termination in response to the termination codons UAA, UAG and UGA. May play a role as a potent stimulator of the release factor activity of ETF1. Exhibits GTPase activity, which is ribosome- and ETF1-dependent. May play a role in cell cycle progression. Component of the transient SURF complex which recruits UPF1 to stalled ribosomes in the context of nonsense-mediated decay (NMD) of mRNAs containing premature stop codons.

Synonyms:  GSPT2,  GSPT2p,  hGSPT2,  Q8IYD1,  ERF3B ...

Linkouts:  STRING  Pharos  UniProt  OMIM