ST6GALNAC1
Description
The ST6GALNAC1 (ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 1) is a protein-coding gene located on chromosome 17.
ST6GALNAC1 gene encodes for an enzyme that adds a sialic acid (Neu5Ac) to an O-linked N-acetylgalactosamine (GalNAc) on a peptide/proteins (also called Tn antigen) with an α2-6 linkage. This creates the sialyl-Tn antigen. The enzyme preferentially attaches to threonine over serine containing GalNAc residues.
ST6GALNAC1 is a sialyltransferase enzyme that is specifically expressed in goblet cells of the intestines. This enzyme adds sialic acid to N-acetylgalactosamine (GalNAc) residues on glycoproteins, forming the sialyl-Tn (S-Tn) antigen. S-Tn antigen is found in goblet cells, and has been implicated in ulcerative colitis and various cancers. The sialylation of glycoproteins by ST6GALNAC1 is critical for maintaining the integrity of intestinal mucus, protecting it from bacterial degradation. This role in mucus integrity is essential for intestinal host-commensal homeostasis.
ST6GALNAC1 is also known as HSY11339, SIAT7A, ST6GalNAcI, STYI.
Associated Diseases
- Lynch syndrome
- Hirschsprung disease
- colorectal cancer, susceptibility to, 3
- AXIN2-related attenuated familial adenomatous polyposis
- inflammatory bowel disease 30
- familial adenomatous polyposis 2
- hereditary mixed polyposis syndrome
- familial visceral myopathy
- immunodeficiency due to MASP-2 deficiency
- chronic intestinal pseudoobstruction
- microvillus inclusion disease
- inflammatory bowel disease 1
- Lynch syndrome 8
