CHST9

Chr 18

carbohydrate sulfotransferase 9

Also known as: GALNAC4ST-2, GalNAc4ST2

NCBI Gene: 83539 ENSG00000154080 UniProt: Q7L1S5

The protein is a Golgi-localized sulfotransferase that catalyzes the transfer of sulfate to N-acetylgalactosamine residues in N-glycans and O-glycans, and is required for biosynthesis of the glycoprotein hormones lutropin and thyrotropin. Mutations cause autosomal recessive hypogonadotropic hypogonadism with hypothyroidism, typically presenting in infancy with growth delays and developmental issues. The gene is not highly constrained against loss-of-function variants.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene belongs to the sulfotransferase 2 family. It is localized to the golgi membrane, and catalyzes the transfer of sulfate to position 4 of non-reducing N-acetylgalactosamine (GalNAc) residues in both N-glycans and O-glycans. Sulfate groups on carbohydrates confer highly specific functions to glycoproteins, glycolipids, and proteoglycans, and are critical for cell-cell interaction, signal transduction, and embryonic development. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Aug 2011]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.18

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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