Individuals with Two Copies of a Certain Loss-Of-Function PMM2 Allele

Short Answer

Individuals with two copies of a certain loss-of-function PMM2 allele suffer from hypotonia (weak muscle tone), and about 20 percent of these individuals will die of multiple organ failure during their first year of life.The PMM2 gene codes for an enzyme that is involved in the process of _______, which adds sugars to proteins on certain amino acid R groups on proteins.The modification of target proteins by this process is necessary for these proteins to fulfill their functional roles.