CHST8 Chromosome 19

Carbohydrate sulfotransferase 8
1 variant 1 Health Risk

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What This Gene Does
The protein encoded by this gene belongs to the sulfotransferase 2 family. It is predominantly expressed in the pituitary gland, and is localized to the golgi membrane. This protein 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 sulfation of GalNAc on luteinizing hormone (LH), which is required for production of the sex hormones. Mice lacking this enzyme, exhibit increased levels of circulating LH, and precocious sexual maturation of both male and female mice. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011]
Gene Info
Gene Group
Sulfotransferases, membrane bound
Locus Type
gene with protein product
Location
19q13.11
Ensembl
ENSG00000124302
Associated Conditions (2)
Peeling skin syndrome type A
CHST8-related disorder
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS149660944 Health Risk Conflicting classifications of pathogenicity Peeling skin syndrome type A, CHST8-related disorder, Peeling skin syndrome type A
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