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- accession：NM_001167607
- 基因别名：GM2A
- 基因描述：Homo sapiens GM2 ganglioside activator (GM2A), transcript variant 2, mRNA.
- 载体：现货载体
- CDS区长度：561
- 翻译后氨基酸长度：186
- TranscriptVariant：This variant (2) uses an alternate splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
- 基因简介：This gene encodes a small glycolipid transport protein which acts as a substrate specific co-factor for the lysosomal enzyme beta-hexosaminidase A. Beta-hexosaminidase A, together with GM2 ganglioside activator, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene result in GM2-gangliosidosis type AB or the AB variant of Tay-Sachs disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]
- 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
