Gene Symbol | NSUN2 |
Entrez Gene ID | 54888 |
Full Name | NOP2/Sun RNA methyltransferase family member 2 |
Synonyms | MISU,MRT5,SAKI,TRM4 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a methyltransferase that catalyzes the methylation of cytosine to 5-methylcytosine (m5C) at position 34 of intron-containing tRNA(Leu)(CAA) precursors. This modification is necessary to stabilize the anticodon-codon pairing and correctly translate the mRNA. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Mar 2011]. |
Disorder MIM: | |
Disorder Html: | Mental retardation, autosomal recessive 5, 611091 (3) |