B4GAT1

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Description

The B4GAT1 gene, encodes for a beta-1,4-galactosyltransferase enzyme. This enzyme is crucial for the biosynthesis of complex carbohydrates, known as N-glycans, which are attached to proteins. N-glycans play a vital role in various cellular processes, including protein folding, trafficking, and cell signaling. Variations in B4GAT1 gene expression or its enzymatic activity can disrupt these processes, leading to a range of diseases.

Associated Diseases

• Congenital disorders of glycosylation (CDG) type Ia
• Multiple myeloma
• Breast cancer
• Ovarian cancer
• Alzheimer‘s disease
• Diabetes

Did you know?

Mutations in the B4GAT1 gene can lead to altered N-glycan profiles, which can be used as biomarkers for specific diseases.