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Article

Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome).

Human mutation - 1 Jul 2010

Fedele Anthony O, Hopwood John J

Abstract excerpt

Mucopolysaccharidosis (MPS) IIIC is an autosomal recessive lysosomal storage disorder caused by a deficiency in heparan acetyl CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT). The characteristic feature is the deterioration of the central nervous system, but other symptoms may include coarse facies, developmental delay, macrocrania and motor retardation. HGSNAT is localised to the lysosomal membrane and...

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Source

Identifiers

PMID: 20583299
DOI: 10.1002/humu.21286

Genes

HGSNAT

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome).PMID 20583299Read ↗

Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene.Semantic proximity Read ↗

Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online.Semantic proximity Read ↗

Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).Semantic proximity Read ↗

Mucopolysaccharidosis type IIIC in chinese mainland: clinical and molecular characteristics of ten patients and report of six novel variants in the HGSNAT gene.Semantic proximity Read ↗

Novel HGSNAT Variants Identified in the Oldest Siblings With MPS IIIC: Functional Characterization and Literature Review.Semantic proximity Read ↗

HGSNAT has a TATA-less promoter with multiple starts of transcription.Semantic proximity Read ↗

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