Gene Symbol | TSEN34 |
Entrez Gene ID | 79042 |
Full Name | tRNA splicing endonuclease subunit 34 |
Synonyms | LENG5,PCH2C,SEN34,SEN34L |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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.[provided by RefSeq, Oct 2009]. |
Disorder MIM: | |
Disorder Html: | ?Pontocerebellar hypoplasia type 2C, 612390 (3) |