Pyruvate kinase deficiency is an inherited metabolic disorder in humans caused by mutations in the PKLR PKLR\,PKLR gene. This gene encodes the enzyme pyruvate kinase, which is vital for maintaining ATP production via glycolysis in red blood cells.
Define the term gene mutation and explain how a mutation in the PKLR PKLR\,PKLR gene can:
12 exam-style questions on AQA A Level Biology Alteration of the sequence of bases in DNA can alter the structure of proteins (A-level only), covering Alteration of the sequence of bases in DNA can alter the structure of proteins (A-level only). Each one has a worked solution and a mark scheme showing where the marks go.