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FARS2

This gene encodes a protein that transfers phenylalanine to its cognate tRNA. This protein localizes to the mitochondrion and plays a role in mitochondrial protein translation. Mutations in this gene can cause combined oxidative phosphorylation deficiency 14 (Alpers encephalopathy). Alternative splicing results in multiple transcript variants.
Protein class

Disease related genes, Enzymes, Human disease related genes, Potential drug targets

Predicted location

Intracellular

Single cell type specificity

Group enriched (Excitatory neurons, Oligodendrocyte precursor cells, Inhibitory neurons, Oligodendrocytes, Astrocytes, Microglial cells, Late spermatids, Early spermatids)

Immune cell specificity

Low immune cell specificity

Cell line specificity

Low cell line specificity

Interaction

Monomer.

Molecular function

Aminoacyl-tRNA synthetase, Ligase

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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