Groupmail Free Edition on this page. Tay-Sachs, Sandhoff, AB variant. GM2-ganglioside is a fatty acid derivative that is normally broken down in the lysosome by Hexosaminidase A complex (AB) and the GM2 activator protein. Hex A and B can create Hex S (AA), Hex A (AB), and Hex B (BB).

GM2A is an activator. Defects in the hydrolases involved leads to the build up of lipids in lysosomes, more specifically in the brain. The mutations leading to buildup of GM2 are in the Hex A complex (AB) and in GM2A. The other mutations affect other glycomolecules. Mucolipidoses (ML) occurs due to a deficincy in GlCnAc phosphotransferases which results in lysosomal hydrolases not receiving M6P tag.

Leads to accumulation of undigested material in the lysosome. Multiple sulfatase deficiency (MSD) occurs due to a faulty oxidizing protein in the ER, resulting in the buildup of sulfated molecules in the lysosome. Niemann-Pick (NPC) disease results in the accumulation of cholesterol in the lysosome due to mutations in transmembrane and soluble lysosomal proteins which are supposed to recognize and export the cholesterol.

This article needs additional citations for. Mafia 2 Full Game Cz Pc more. Unsourced material may be challenged and removed. (December 2016) () This article deals with protein targeting in except where noted. Protein targeting or protein sorting is the biological mechanism by which are transported to the appropriate destinations in the cell or outside it. Fsx - Virtualcol Atr-42. Proteins can be targeted to the inner space of an, different intracellular,, or to exterior of the cell via. This delivery process is carried out based on information contained in the protein itself. Correct sorting is crucial for the cell; errors can lead to diseases.