GMPPB


Description

The GMPPB gene, located on chromosome 11, encodes for the protein GDP-mannose pyrophosphorylase B, a critical enzyme involved in glycosylation. This process attaches sugar molecules (glycans) to proteins and lipids, influencing their structure, function, and stability. GMPPB plays a key role in the biosynthesis of GDP-mannose, a crucial precursor for various glycosylation pathways. Its activity is essential for proper protein folding, immune response, and cell signaling, highlighting its widespread importance in cellular processes.

Associated Diseases

Did you know?

GMPPB gene mutations can lead to a rare and fascinating condition called "mannose-sensitive endoplasmic reticulum retention", where a lack of functional GDP-mannose pyrophosphorylase B results in the accumulation of misfolded proteins in the endoplasmic reticulum.


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