NDST3

Chr 4

N-deacetylase and N-sulfotransferase 3

Also known as: HSST3

NCBI Gene: 9348 ENSG00000164100 UniProt: O95803 OMIM: 603950

This enzyme catalyzes N-deacetylation and N-sulfation of glucosamine residues in heparan sulfate biosynthesis within the Golgi apparatus, essential for creating functional oligosaccharide sequences that mediate specific ligand binding activities. Mutations cause autosomal recessive intellectual disability with behavioral abnormalities and seizures, typically presenting in early childhood. The gene is highly constrained against loss-of-function variants, indicating its critical role in normal development.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the heparan sulfate/heparin GlcNAc N-deacetylase/ N-sulfotransferase family. The encoded enzyme is a type II transmembrane protein that resides in the Golgi apparatus. This monomeric bifunctional enzyme catalyzes the N-deacetylation and N-sulfation of N-acetylglucosamine residues in heparan sulfate and heparin, which are the initial chemical modifications required for the biosynthesis of the functional oligosaccharide sequences that define the specific ligand binding activities of heparan sulfate and heparin. [provided by RefSeq, Nov 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.59

LOEUF

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Mechanism