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]
Blood proteins Serum albumin accounts for 55% of blood proteins, and is a major contributor to maintaining the osmotic pressure of plasma to assist in the transport of lipids and steroid hormones. Globulins make up 38% of blood proteins and transport ions, hormones, and lipids assisting in immune function. Fibrinogen comprises 7% of blood proteins; conversion of fibrinogen to insoluble fibrin is essential for blood clotting. The remainder of the plasma proteins (1%) are regulatory proteins, such as enzymes, proenzymes, and hormones. All blood proteins are synthesized in liver except for the gamma globulins.