Gene Symbol | TSEN2 |
Entrez Gene ID | 80746 |
Full Name | tRNA splicing endonuclease subunit 2 |
Synonyms | PCH2B,SEN2,SEN2L |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes one of the subunits of the tRNA splicing endonuclease. This endonuclease catalyzes the first step in RNA splicing which is the removal of introns. Mutations in this gene have been associated with pontocerebellar hypoplasia type 2. A pseudogene has been identified on chromosome 4. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2009]. |
Disorder MIM: | |
Disorder Html: | Pontocerebellar hypoplasia type 2B, 612389 (3) |