- accession:NM_000405
- 基因别名:GM2A
- 基因描述:Homo sapiens GM2 ganglioside activator (GM2A), transcript variant 1, mRNA.
- 载体: 现货载体
- CDS区长度:582
- 翻译后氨基酸长度:193
- TranscriptVariant:This variant (1) encodes the longer 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]
- 载体信息:自有图片地址
- 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