ALG10
ALG10 is a gene that encodes a protein involved in the glycosylation process. Glycosylation is a critical function in the cells of living organisms, as it is responsible for the attachment of sugar molecules to proteins and lipids, which is essential for their stability and function.
Function[edit | edit source]
The ALG10 gene provides instructions for making a protein that is involved in the process of glycosylation. This protein is located in the endoplasmic reticulum, a structure within cells where protein processing and transport occurs. The ALG10 protein adds a glucose molecule to a growing glycan chain, a step in the formation of the glycan structure that will be attached to proteins or lipids.
Clinical significance[edit | edit source]
Mutations in the ALG10 gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ih). CDG disorders are a group of conditions that affect a person's ability to properly glycosylate proteins and lipids. Symptoms of CDG-Ih can include developmental delay, intellectual disability, and other neurological problems.
See also[edit | edit source]
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD