Gene Symbol | FARS2 |
Entrez Gene ID | 10667 |
Full Name | phenylalanyl-tRNA synthetase 2, mitochondrial |
Synonyms | COXPD14,FARS1,HSPC320,PheRS,SPG77 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. [provided by RefSeq, Jan 2016]. |
Disorder MIM: | |
Disorder Html: | Combined oxidative phosphorylation deficiency 14, 614946 (3); ?Spastic paraplegia 77, autosomal recessive, 617046 (3) |