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NSUN5 is a member of the evolutionarily conserved NOL1/NOP2/Sun domain family. The encoded protein may function as a DNA methyltransferase in the nucleus. The gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: 28S rRNA (cytosine-C(5))-methyltransferase; FLJ10267; MGC986; NOL1-related protein; NOL1/NOP2/Sun domain family member 5; NOL1/NOP2/Sun domain family, member 5; NOL1R; NOP2/Sun domain family, member 5; NOP2/Sun domain family, member 5A; probable 28S rRNA (cytosine-C(5))-methyltransferase; putative methyltransferase NSUN5; Williams Beuren syndrome chromosome region 20A; Williams Beuren syndrome chromosome region 20A homolog; Williams-Beuren syndrome chromosomal region 20A protein; Williams-Beuren syndrome chromosomal region 20A protein homolog; Williams-Beuren syndrome critical region protein 20; Williams-Beuren syndrome critical region protein 20 copy A
基因别名: 9830109N13Rik; AI326939; NOL1; NOL1R; NSUN5; NSUN5A; p120; p120(NOL1); RGD1309268; WBSCR20; WBSCR20A
UniProt ID: (Human) Q96P11, (Mouse) Q8K4F6
Entrez Gene ID: (Human) 55695, (Mouse) 100609, (Rat) 288595