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]
Membrane transport protein A membrane transport protein (or simply transporter) is a membrane protein[1] involved in the movement of ions, small molecules, or macromolecules, such as another protein, across a biological membrane. Transport proteins are integral transmembrane proteins; that is they exist permanently within and span the membrane across which they transport substances. The proteins may assist in the movement of substances by facilitated diffusion or active transport. The two main types of proteins involved in such transport are broadly categorized as either channels or carriers. The solute carriers and atypical SLCs[2] are secondary active or facilitative transporters in humans.[3][4]