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
- Congenital Disorder of Glycosylation Type Ib (CDG-Ib): A rare genetic disorder characterized by impaired glycosylation, leading to severe developmental delays, neurological problems, and other complications.
- Mannosidosis: A lysosomal storage disorder caused by deficiency in the enzyme alpha-mannosidase, resulting in accumulation of mannose-containing molecules and affecting various organs.
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.
