GSPT2 Chromosome X
G1 to S phase transition 2
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What This Gene Does
This gene encodes a GTPase that belongs to the GTP-binding elongation factor family. The encoded protein is a polypeptide release factor that complexes with eukaryotic peptide chain release factor 1 to mediate translation termination. This protein may also be involved in mRNA stability.[provided by RefSeq, Mar 2010]
Gene Info
Gene Group
"SURF complex|Translational GTPases"
Locus Type
gene with protein product
Location
Xp11.22
Ensembl
ENSG00000189369
Associated Conditions (3)
Seizure
Delayed speech and language development
Autism
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1057519440 | Health Risk | Pathogenic | Seizure, Delayed speech and language development, Autism |