The CHST8 gene (CHST8 stands for: Carbohydrate Sulfotransferase 8) is a protein coding gene located on chromosome 19q13.11.
Diseases associated with CHST8 include:
- Peeling skin syndrome 3
- Peeling skin syndrome type A.
CHST8 Gene
DefinitionThis section has been translated automatically.
General informationThis section has been translated automatically.
The protein encoded by this gene belongs to the family of sulfotransferases 2. The enzyme is predominantly expressed in the pituitary gland and is localized to the Golgi membrane.
Carbohydrate sulfotransferase 8 catalyzes the transfer of sulfate to position 4 of non-reducing N-acetylgalactosamine (GalNAc) residues in both N-glycans and O-glycans. It is responsible for sulfating GalNAc at luteinizing hormone (LH), which is required for sex hormone production.
Mice lacking this enzyme exhibit increased levels of circulating LH and premature sexual maturation in both male and female mice. Alternatively spliced transcript variants have been found for this gene.
LiteratureThis section has been translated automatically.
- Barret A et al. (2005) Glycosylation-related gene expression in prion diseases: PrPSc accumulation in scrapie infected GT1 cells depends on beta-1,4-linked GalNAc-4-SO4 hyposulfation. J Biol Chem 280:10516-1023.
- Martin R et al (2011) Variation in Chst8 gene expression level affects PrPC to PrPSc conversion efficiency in prion-infected Mov cells. Biochem Biophys Res Commun 414:587-591.