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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| GM2ABA-20-REGO | 20 (40 μL) | 200 μL |
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| GM2ABA-20-REGR | 20 (40 μL) | 200 μL |
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| GM2ABA-20-ORGR | 20 (40 μL) | 200 μL |
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| GM2ABA-20-GOGR | 20 (40 μL) | 200 μL |
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| GM2ABA-20-GRRE | 20 (40 μL) | 200 μL |
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| GM2ABA-20-GROR | 20 (40 μL) | 200 μL |
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| GM2ABA-20-GRGO | 20 (40 μL) | 200 μL |
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| GM2ABA-20-AQOR | 20 (40 μL) | 200 μL |
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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]
Gene Symbol : GM2A
Gene Name : GM2 ganglioside activator
Chromosome : CHR 5: 151,253,051-151,270,393
Locus : 5q33.1
Alt. Genes : SGK2
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