EIF4G1 Chromosome 3
Eukaryotic translation initiation factor 4 gamma 1
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What This Gene Does
The protein encoded by this gene is a component of the multi-subunit protein complex EIF4F. This complex facilitates the recruitment of mRNA to the ribosome, which is a rate-limiting step during the initiation phase of protein synthesis. The recognition of the mRNA cap and the ATP-dependent unwinding of 5'-terminal secondary structure is catalyzed by factors in this complex. The subunit encoded by this gene is a large scaffolding protein that contains binding sites for other members of the EIF4F complex. A domain at its N-terminus can also interact with the poly(A)-binding protein, which may mediate the circularization of mRNA during translation. Alternative splicing results in multiple transcript variants, some of which are derived from alternative promoter usage. [provided by RefSeq, Aug 2010]
Gene Info
Gene Group
"Small nucleolar RNA protein coding host genes|MIF4G domain containing proteins"
Locus Type
gene with protein product
Location
3q27.1
Ensembl
ENSG00000114867
Associated Conditions (3)
Parkinson disease 18
autosomal dominant
susceptibility to
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS111290936 | Health Risk | risk factor | Parkinson disease 18, autosomal dominant, susceptibility to |
| RS112176450 | Health Risk | risk factor | Parkinson disease 18, autosomal dominant, susceptibility to |