Gene Symbol | TSEN54 |
Entrez Gene ID | 283989 |
Full Name | tRNA splicing endonuclease subunit 54 |
Synonyms | PCH2A,PCH4,PCH5,SEN54L,sen54 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a subunit of the tRNA splicing endonuclease complex, which catalyzes the removal of introns from precursor tRNAs. The complex is also implicated in pre-mRNA 3-prime end processing. Mutations in this gene result in pontocerebellar hypoplasia type 2.[provided by RefSeq, Oct 2009]. |
Disorder MIM: | |
Disorder Html: | Pontocerebellar hypoplasia type 2A, 277470 (3); Pontocerebellar hypoplasia type 4, 225753 (3); ?Pontocerebellar hypoplasia type 5, 610204 (3) |