ST6GALNAC2
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
