This gene encodes a member of the glycosyl hydrolase 20 family of proteins. The encoded preproprotein is proteolytically processed to generate the alpha subunit of the lysosomal enzyme beta-hexosaminidase. This enzyme, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene lead to an accumulation of GM2 ganglioside in neurons, the underlying cause of neurodegenerative disorders termed the GM2 gangliosidoses, including Tay-Sachs disease (GM2-gangliosidosis type I). Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| HEXABA-20-REGO | 20 (40 μL) | 200 μL |
|
Request Pricing |
| HEXABA-20-REGR | 20 (40 μL) | 200 μL |
|
Request Pricing |
| HEXABA-20-ORGR | 20 (40 μL) | 200 μL |
|
Request Pricing |
| HEXABA-20-GOGR | 20 (40 μL) | 200 μL |
|
Request Pricing |
| HEXABA-20-GRRE | 20 (40 μL) | 200 μL |
|
Request Pricing |
| HEXABA-20-GROR | 20 (40 μL) | 200 μL |
|
Request Pricing |
| HEXABA-20-GRGO | 20 (40 μL) | 200 μL |
|
Request Pricing |
| HEXABA-20-AQOR | 20 (40 μL) | 200 μL |
|
Request Pricing |
This gene encodes a member of the glycosyl hydrolase 20 family of proteins. The encoded preproprotein is proteolytically processed to generate the alpha subunit of the lysosomal enzyme beta-hexosaminidase. This enzyme, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene lead to an accumulation of GM2 ganglioside in neurons, the underlying cause of neurodegenerative disorders termed the GM2 gangliosidoses, including Tay-Sachs disease (GM2-gangliosidosis type I). Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]
Gene Symbol : HEXA
Gene Name : Hexosaminidase subunit alpha
Chromosome : CHR 15: 723,764,72-723,434,34
Locus : 15q23
Alt. Genes : YAF2
Lorem Ipsum is simply dummy text of the printing and typesetting industry.
Lorem Ipsum is simply dummy text of the printing and typesetting industry.