Question

On which chromosome is the PAH gene located?

Options

• Chromosome 12q (long arm)

• X chromosome

• Chromosome 11

• Chromosome 16

Answer 1

The PAH gene (phenylalanine hydroxylase gene) is located on Chromosome 12q (long arm). Mutations in this gene lead to PAH enzyme deficiency, resulting in the accumulation of phenylalanine and its toxic derivatives.