人 WBSCR22 (NM_017528) cDNA克隆

Accession: NM_017528
基因名称: WBSCR22
基因别名: WBMT; MERM1; PP3381; HUSSY-3; HASJ4442
基因描述: Homo sapiens Williams Beuren syndrome chromosome region 22 (WBSCR22), transcript variant 2, mRNA.
种属: Human
CDS区长度: 846 (查看编码区序列)
翻译后氨基酸长度: 281 (查看氨基酸序列)
Transcript Variant: This variant (2) lacks an exon in the 3' coding region but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
产品编号 产品名称 载体 规格 价格
G100805 人 WBSCR22 (NM_017528) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes a protein containing a nuclear localization signal and an S-adenosyl-L-methionine binding motif typical of methyltransferases, suggesting that the encoded protein may act on DNA methylation. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternatively spliced transcript variants have been found. [provided by RefSeq, Feb 2011]