GNS

Chr 12AR

glucosamine (N-acetyl)-6-sulfatase

Also known as: G6S

NCBI Gene: 2799 ENSG00000135677 UniProt: P15586 OMIM: 607664

This gene encodes a lysosomal enzyme that catabolizes heparin, heparan sulfate, and keratan sulfate. Mutations cause mucopolysaccharidosis type IIID (Sanfilippo D syndrome), the rarest subtype of Sanfilippo syndrome, through autosomal recessive inheritance. Enzyme deficiency leads to accumulation of undegraded substrate in lysosomes, resulting in progressive neurodegeneration.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

The product of this gene is a lysosomal enzyme found in all cells. It is involved in the catabolism of heparin, heparan sulphate, and keratan sulphate. Deficiency of this enzyme results in the accumulation of undegraded substrate and the lysosomal storage disorder mucopolysaccharidosis type IIID (Sanfilippo D syndrome). Mucopolysaccharidosis type IIID is the least common of the four subtypes of Sanfilippo syndrome. [provided by RefSeq, Jul 2008]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Mucopolysaccharidosis type IIIDMIM #252940

Clinical highlights

Gene-disease validity (ClinGen)

mucopolysaccharidosis type 3D · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

127

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.61

LOEUF

LOF

Mechanism· G2P

📖