Description
Product Characteristics:
May have S-adenosyl-L-methionine-dependent methyl-transferase activity.
Subcellular location: Nucleus
Synonyms: FLJ10267, MGC986, NOL1, NOL1-related protein, NOL1/NOP2/Sun domain family member 5, NOL1R, NOP2/Sun domain family, member 5, NOP2/Sun domain family, member 5A, NSUN5, NSUN5_HUMAN, p120, Putative methyltransferase NSUN5, WBSCR20, WBSCR20A, Williams Beuren syndrome chromosome region 20A, Williams-Beuren syndrome chromosomal region 20A protein, Williams-Beuren syndrome critical region protein 20 copy A.
Target Information: This gene encodes a member of the evolutionarily conserved NOL1/NOP2/Sun domain family. The encoded protein may function as a DNA methyltransferase in the nucleus. This 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. [provided by RefSeq, Dec 2009]