GM2R

GM2R refers to the gene that encodes the enzyme beta-hexosaminidase subunit B. This enzyme is part of a larger complex that plays a crucial role in the breakdown of certain sugar-containing molecules called glycoconjugates within cells. Specifically, beta-hexosaminidase is involved in the lysosomal degradation of gangliosides and other glycosphingolipids.

Mutations in the GM2R gene can lead to a deficiency in the functional beta-hexosaminidase B enzyme. This deficiency impairs the cell's ability to break down specific gangliosides, leading to their accumulation in lysosomes. This accumulation is particularly problematic in nerve cells.

The genetic disorder resulting from mutations in the GM2R gene is known as Tay-Sachs disease, specifically the AB variant. Tay-Sachs disease is a rare, inherited neurodegenerative disorder that causes a progressive loss of neurological function. Symptoms typically appear in infancy and include developmental delay, muscle weakness, and eventual paralysis. While most cases of Tay-Sachs disease are caused by mutations in the HEXA gene (encoding the alpha subunit), the GM2R gene is also implicated in certain forms of the disease. Research into GM2R and its associated disorders continues to advance our understanding of lysosomal storage diseases.