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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 coars...

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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 2 Sept 2026. Prepared record publication-20583299-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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

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

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

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