- 商品货号:G122293
- accession:NM_004737
- 基因别名:LARGE
- 基因描述:Homo sapiens like-glycosyltransferase (LARGE), transcript variant 1, mRNA.
- 载体:现货载体
- CDS区长度:2271
- 翻译后氨基酸长度:756
- TranscriptVariant:This variant (1) represents the longer transcript.
- 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