ALG11

Description

The ALG11 gene encodes an essential enzyme called alpha-1,6-mannosyltransferase, which plays a crucial role in N-glycosylation, a vital process that modifies proteins by adding sugar chains (glycans). N-glycosylation is critical for protein folding, stability, and function, impacting various cellular processes. ALG11 is highly conserved across species, indicating its fundamental importance in biological systems.

Associated Diseases

• Congenital disorders of glycosylation (CDG) type Ia
• Other rare genetic disorders affecting glycosylation
• Potential involvement in neurodevelopmental disorders

Did you know?

Mutations in the ALG11 gene can lead to a rare but severe condition called CDG type Ia, characterized by developmental delays, neurological problems, and other health issues.