ST6GALNAC2

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Description

The ST6GALNAC2 (ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2) is a protein-coding gene located on chromosome 17.

Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 is an enzyme that in humans is encoded by the ST6GALNAC2 gene.

ST6GALNAC2 catalyzes the transfer of N-acetylneuraminyl groups onto glycan chains in glycoproteins. It exhibits a preference for N-acetylgalactosamine (GalNAc) residues that have been modified by the addition of galactose or galactose followed by sialic acid in an alpha-2,3 linkage.

ST6GALNAC2 is also known as SAITL1, SIAT7, SIAT7B, SIATL1, ST6GalNAII, STHM.

Associated Diseases

• COVID-19
• endometrial cancer
• isolated agammaglobulinemia
• common variable immunodeficiency
• BENTA disease
• immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
• immunodeficiency 105
• hyper-IgM syndrome type 3
• T-B+ severe combined immunodeficiency due to JAK3 deficiency
• severe combined immunodeficiency due to CTPS1 deficiency
• severe combined immunodeficiency due to LAT deficiency
• autoimmune lymphoproliferative syndrome type 2B
• immunodeficiency 18
• immunodeficiency 72 with autoinflammation
• immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias
• primary intestinal lymphangiectasia
• agammaglobulinemia 8b, autosomal recessive