what type of protein is affected in cells of individuals with tay-sachs
Tay–Sachs disease Tayâ€“Sachs disease is caused by a genetic mutation in the HEXA genes on chromosome 15.[1] It is inherited from a person's parents in an autosomal recessive manner.[1] The mutation results in problems with an enzyme called beta-hexosamidase A which results in the buildup of the molecule GM2 ganglioside within cells, leading to toxicity.[1] Diagnosis is by measuring the blood hexosaminidase A level or genetic testing.[2] It is a type of sphingolipidoses.[3]
Endomembrane system Many types of cells export proteins produced by ribosomes attached to the rough ER. The ribosomes assemble amino acids into protein units, which are carried into the rough ER for further adjustments. These proteins may be either transmembrane proteins, which become embedded in the membrane of the endoplasmic reticulum, or water-soluble proteins, which are able to pass through the membrane into the lumen. Those that reach the inside of the endoplasmic reticulum are folded into the correct three-dimensional conformation. Chemicals, such as carbohydrates or sugars, are added, then the endoplasmic reticulum either transports the completed proteins, called secretory proteins, to areas of the cell where they are needed, or they are sent to the Golgi apparatus for further processing and modification.[23][26]