NSUN5 —— NOP2 / Sun RNA甲基转移酶5

NSUN5

NOP2 / Sun RNA甲基转移酶5

NOP2/Sun RNA methyltransferase 5

该基因编码可能充当甲基转移酶的蛋白质的进化保守家族的成员。该基因位于7号染色体的较大区域，该区域在多系统发育疾病Williams-Beuren综合征中缺失。该基因有两个假基因位于7号染色体的同一区域。选择性剪接导致多个转录变体编码不同的同工型。[由RefSeq提供，2013年7月]

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]