ST6GAL2
Description
The ST6GAL2 (ST6 beta-galactoside alpha-2,6-sialyltransferase 2) is a protein-coding gene located on chromosome 2.
ST6GAL2 is a human gene encoding a sialyltransferase, a type II transmembrane protein. It catalyzes the transfer of sialic acid from CMP to an oligosaccharide substrate. Polymorphisms in this gene may be associated with variations in risperidone response in schizophrenic patients. Multiple transcript variants have been described.
ST6GAL2 transfers sialic acid from CMP-sialic acid to galactose-containing acceptors. It exhibits alpha-2,6-sialyltransferase activity towards oligosaccharides with the Gal-beta-1,4-GlcNAc sequence at the non-reducing end, but shows limited activity towards glycoproteins and glycolipids.
ST6GAL2 is also known as SIAT2, ST6GalII.
Associated Diseases
- pacman dysplasia
- tibia, hypoplasia or aplasia of, with polydactyly
- tibial hemimelia
- Blount disease
- syndactyly type 4
- fibular aplasia-ectrodactyly syndrome
- spondyloepimetaphyseal dysplasia, Missouri type
- Gollop-Wolfgang complex
- acromesomelic dysplasia 2C, Hunter-Thompson type
- laurin-Sandrow syndrome
- Osebold-Remondini syndrome
