ST8SIA1
Description
The ST8SIA1 (ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1) is a protein-coding gene located on chromosome 12.
ST8SIA1 encodes a type II membrane protein, Alpha-N-acetylneuraminide alpha-2,8-sialyltransferase, which catalyzes the transfer of sialic acid from CMP-sialic acid to GM3 to produce gangliosides GD3 and GT3. These gangliosides are membrane-bound glycosphingolipids containing sialic acid, and GD3 is known to be important for cell adhesion and growth of cultured malignant cells. The encoded protein is found in the Golgi apparatus and is a member of glycosyltransferase family 29.
ST8SIA1 catalyzes the addition of sialic acid in alpha 2,8-linkage to the sialic acid moiety of the ganglioside GM3 to form ganglioside GD3, a key component of gangliosides. This enzyme can also catalyze the addition of a second alpha-2,8-sialic acid to GD3, resulting in GT3. ST8SIA1 can utilize GM1b, GD1a and GT1b as acceptor substrates to synthesize GD1c, GT1a and GQ1b, respectively. Furthermore, ST8SIA1 can synthesize unusual tetra- and pentasialylated lactosylceramide derivatives known as GQ3 (II3Neu5Ac4-Gg2Cer) and GP3 (II3Neu5Ac5-Gg2Cer) in breast cancer cells.
ST8SIA1 is also known as GD3S, SIAT8, SIAT8-A, SIAT8A, ST8SiaI.
Associated Diseases
- refractive error
- cancer
- severe combined immunodeficiency due to CARD11 deficiency
- severe combined immunodeficiency due to CTPS1 deficiency
- immunodeficiency 18
- reticular dysgenesis
- Wiskott-Aldrich syndrome
- combined immunodeficiency with skin granulomas
- tuberculosis
- immunodeficiency 105
