C1GALT1

C1GALT1 (also known as Core 1 Synthase, Glycoprotein-N-Acetylgalactosamine 3-Beta-Galactosyltransferase 1) is a gene that encodes a protein involved in the synthesis of O-glycans. These glycans are important for various biological processes, including cell adhesion, cell signaling, and protein stability.

Function

The C1GALT1 gene provides instructions for making an enzyme called C1GALT1. This enzyme is involved in the process of glycosylation, which is the addition of sugar molecules to proteins. Specifically, C1GALT1 is responsible for the addition of a galactose molecule to the O-glycan core structure. This step is critical for the formation of functional O-glycans.

Clinical significance

Mutations in the C1GALT1 gene have been associated with Tn syndrome, a rare genetic disorder characterized by the presence of the Tn antigen on red blood cells. This antigen is a truncated O-glycan, and its presence is indicative of a defect in O-glycan synthesis.

In addition, altered expression of C1GALT1 has been observed in various types of cancer, including breast cancer and colorectal cancer. It is thought that changes in O-glycan synthesis, mediated by C1GALT1, may contribute to the development and progression of these cancers.

See also

• Glycosylation
• Tn syndrome
• O-glycan