MTIF2 Chromosome 2

Mitochondrial translational initiation factor 2
2 variants 2 Health Risk

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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
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