EIF4G1
From SNPedia
is a | gene |
is | mentioned by |
Full name | eukaryotic translation initiation factor 4 gamma, 1 |
EntrezGene | 1981 |
PheGenI | 1981 |
VariationViewer | 1981 |
ClinVar | EIF4G1 |
GeneCards | EIF4G1 |
dbSNP | 1981 |
Diseases | EIF4G1 |
SADR | 1981 |
HugeNav | 1981 |
wikipedia | EIF4G1 |
EIF4G1 | |
gopubmed | EIF4G1 |
EVS | EIF4G1 |
HEFalMp | EIF4G1 |
MyGene2 | EIF4G1 |
23andMe | EIF4G1 |
UniProt | Q04637 |
Ensembl | ENSG00000114867 |
OMIM | 600495 |
# SNPs | 8 |
Max Magnitude | Chromosome position | Summary | |
---|---|---|---|
rs111290936 | 8 | 184,322,089 | Late-onset Parkinson's disease |
rs112019125 | 5 | 184,323,209 | |
rs112176450 | 8 | 184,327,401 | Parkinson's disease |
rs113169049 | 5 | 184,327,277 | |
rs113388242 | 5 | 184,327,376 | |
rs13319149 | 0 | 184,319,745 | |
rs2178403 | 0 | 184,321,878 | |
rs2230571 | 0 | 184,328,682 |
The eIF4G1 gene encodes a protein that is the core scaffold of a multisubunit translation initiation complex that regulates the translation initiation of mRNAs encoding mitochondrial, cell survival and growth genes in response to different stresses.
Variants in this gene have recently (2011) been linked to a form of late-onset, dominant, familial Parkinson's disease.