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- accession：NM_133642
- 基因别名：LARGE
- 基因描述：Homo sapiens like-glycosyltransferase (LARGE), transcript variant 2, mRNA.
- 载体：现货载体
- CDS区长度：2271
- 翻译后氨基酸长度：756
- TranscriptVariant：This variant (2) differs in the 5' UTR, compared to variant 1.
- 基因简介：This gene, which is one of the largest in the human genome, encodes a member of the N-acetylglucosaminyltransferase gene family. It encodes a glycosyltransferase which participates in glycosylation of alpha-dystroglycan, and may carry out the synthesis of glycoprotein and glycosphingolipid sugar chains. It may also be involved in the addition of a repeated disaccharide unit. Mutations in this gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Alternative splicing of this gene results in two transcript variants that encode the same protein. [provided by RefSeq, Jul 2008]
- 规格：10ul 质粒
CDS区参考序列： 点击查看序列翻译后氨基酸参数序列： 点击查看序列
