B3GALT6

Description

The B3GALT6 gene encodes beta-1,3-galactosyltransferase 6, an enzyme crucial for the synthesis of complex carbohydrates called N-glycans. These N-glycans play vital roles in cell-cell interactions, immune responses, and protein folding and stability. B3GALT6 is expressed in various tissues, including the brain, liver, and kidneys, and its activity is tightly regulated during development and in response to environmental cues.

Associated Diseases

• Congenital Disorder of Glycosylation (CDG) Type IIe
• Intellectual disability
• Neurodevelopmental disorders
• Epilepsy

Did you know?

Mutations in B3GALT6 can cause a rare genetic disorder called CDG Type IIe, characterized by severe developmental delays, intellectual disability, and neurological abnormalities.