Question

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What would be the consequence (s) of a defect in glycosylation ? Be specific and give examples of pathological conditions that can occur.What would be the consequence (s) of a defect in glycosylation ? Be specific and give examples of pathological conditions that can occur.

Answer 1

Glycosylation is the complex process by which all human cells build long sugar chains that are attached to proteins , known as glycoproteins. Glycosylation process is affected by the congential disorders that are a group of inherited metabolic disorders. The consequences of a defect in glycosylation include intellectual disability, hypotonia, microcephaly and the degeneration of cerebellum.

Most soluble and membrane bound proteins expressed in the endoplasmic reticulum are glycosylated to certain extent which include secreted proteins, surface receptors and organelle resident proteins.

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