MTIF2 Chromosome 2
Mitochondrial translational initiation factor 2
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What This Gene Does
During the initiation of protein biosynthesis, initiation factor-2 (IF-2) promotes the binding of the initiator tRNA to the small subunit of the ribosome in a GTP-dependent manner. Prokaryotic IF-2 is a single polypeptide, while eukaryotic cytoplasmic IF-2 (eIF-2) is a trimeric protein. Bovine liver mitochondria contain IF-2(mt), an 85-kD monomeric protein that is equivalent to prokaryotic IF-2. The predicted 727-amino acid human protein contains a 29-amino acid presequence. Human IF-2(mt) shares 32 to 38% amino acid sequence identity with yeast IF-2(mt) and several prokaryotic IF-2s, with the greatest degree of conservation in the G domains of the proteins. [provided by RefSeq, Mar 2016]
Gene Info
Gene Group
Translational GTPases
Locus Type
gene with protein product
Location
2p16.1
Ensembl
ENSG00000085760
Associated Conditions (1)
Inborn genetic diseases
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1281877795 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS745980045 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |