Entrez gene ID | | 79042 |
Official gene symbol | | TSEN34 |
Full name | | tRNA splicing endonuclease 34 homolog (S. cerevisiae) |
Aliases | | ,LENG5,PCH2C,SEN34,SEN34L, |
Gene summary | | This gene encodes a catalytic subunit of the tRNA splicing endonuclease, which catalyzes the removal of introns from precursor tRNAs. The endonuclease complex is also associated with a pre-mRNA 3-prime end processing factor. A mutation in this gene results in the neurological disorder pontocerebellar hypoplasia type 2. Multiple alternatively spliced variants, encoding the same protein, have been identified. |
Location | | Chromosome: 19 Locus: 19q13.4 |
Gene position | | 54694119 - 54698394 Map Viewer |
Gene orientation | | plus |
Gene size | | 4276 bp |
Gene sequence |
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OMIM ID | | 608754 |