Entrez gene ID | | 10102 |
Official gene symbol | | TSFM |
Full name | | Ts translation elongation factor, mitochondrial |
Aliases | | ,EFTS,EFTSMT, |
Gene summary | | This gene encodes a mitochondrial translation elongation factor. The encoded protein is an enzyme that catalyzes the exchange of guanine nucleotides on the translation elongation factor Tu during the elongation step of mitchondrial protein translation. Mutations in this gene are associated with combined oxidative phosphorylation deficiency-3 syndrome. Alternate splicing results in multiple transcript variants. |
Location | | Chromosome: 12 Locus: 12q13-q14 |
Gene position | | 58176528 - 58196639 Map Viewer |
Gene orientation | | plus |
Gene size | | 20112 bp |
Gene sequence |
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OMIM ID | | 604723 |