| Worm gene name: | hex-1 |
| Worm sequence name: | T14F9.3 |
| Related human gene: | N-acetyl-beta-glucosaminidase prepro-polypeptide |
| Associated human disease: | Tay sachs |
| People involved in this project: |
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| Left primer sequence: | gaaatctttgacaaacca |
| Right primer sequence: | ggcaagaagtctttgat |
| Size of PCR product: | 803 |
| Brief description: | Tay sachs disease
TSD is inherited in an autosomal recessive pattern. The disease occurs when harmful quantities of a fatty acid derivative called a ganglioside accumulate in the nerve cells of the brain. Gangliosides are lipids, components of cellular membranes, and the ganglioside GM2, implicated in Tay-Sachs disease, is especially common in the nervous tissue of the brain. Summary: Hexosaminidase A is the alpha subunit of the lysosomalenzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines.Beta-hexosaminidase is composed of two subunits, alpha and beta,which are encoded by separate genes. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. |
| Report any problems that might have appeared and any solutions: | Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Alpha subunit gene mutations lead to Tay-Sachs disease (GM2-gangliosidosis type I). |
