Alleles associated with Tay-Sachs disease have mutations that cause a(n) ____.
A)altered form of lamin
B)alteration of a protein needed for brain cell development
C)form of dwarfism
D)absence of pigmentation
E)malfunction of a lysosomal enzyme

Question

Quizplus · Accepted Answer

Tay-Sachs disease is a lysosomal storage disorder caused by mutations in the HEXA gene, which result in a deficiency of the lysosomal enzyme hexosaminidase A. This leads to the accumulation of GM2 ganglioside in cells, particularly in the brain, resulting in neurodegeneration and premature death.

Alleles Associated with Tay-Sachs Disease Have Mutations That Cause A(n)