Gene Symbol | NSUN5 |
Entrez Gene ID | 55695 |
Full Name | NOP2/Sun RNA methyltransferase family member 5 |
Synonyms | NOL1,NOL1R,NSUN5A,WBSCR20,WBSCR20A,p120,p120(NOL1) |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of an evolutionarily conserved family of proteins that may function as methyltransferases. This gene is located in a larger region of chromosome 7 that is deleted in Williams-Beuren syndrome, a multisystem developmental disorder. There are two pseudogenes for this gene located in the same region of chromosome 7. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]. |
Disorder MIM: |