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

question 20

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.

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Definitions:

Flexible Budget

A flexible budget adjusts expenses based on changes in actual revenue or other activity levels, providing a more accurate comparison of budgeted versus actual performance.

Predetermined Rate

A rate established in advance to allocate certain costs, often overhead, to products or job orders based on an estimated or expected basis.

Fixed Overhead

Expenses that do not vary with the level of production or sales, such as rent, salaries of permanent staff, and insurance.

Planned Activity

Activities or tasks that have been scheduled and outlined in advance as part of a project or process planning.