Gene: HGSNAT

Alternate names for this Gene: HGNAT|MPS3C|RP73|TMEM76

Gene Summary: This gene encodes a lysosomal acetyltransferase, which is one of several enzymes involved in the lysosomal degradation of heparin sulfate. Mutations in this gene are associated with Sanfilippo syndrome C, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate.

Gene is located in Chromosome: 8

Location in Chromosome : 8p11.21-p11.1

Description of this Gene: heparan-alpha-glucosaminide N-acetyltransferase

Type of Gene: protein-coding

rs1057518644 in HGSNAT gene and MPS III C PMID 27733599 2017 Natural History of Sanfilippo Syndrome Type C in Boyacá, Colombia.

PMID 17397050 2007 Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online.

PMID 19479962 2009 Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene.

PMID 20583299 2010 Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome).

PMID 19823584 2009 Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C.

PMID 18024218 2008 Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands.

PMID 20825431 2011 Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles.

PMID 17033958 2006 Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 16960811 2006 Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C).

PMID 24767253 2014 Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.

PMID 25491247 2014 Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations.

PMID 23301227 2013 The first Korean case of mucopolysaccharidosis IIIC (Sanfilippo syndrome type C) confirmed by biochemical and molecular investigation.

PMID 25859010 2015 Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT).

rs1563366896 in HGSNAT gene and Mucopolysaccharidosis III PMID 18024218 2008 Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands.

PMID 26287674 2015 Evaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage Diseases.

PMID 16960811 2006 Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C).

PMID 17033958 2006 Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).

PMID 18518886 2008 Molecular characterization of Portuguese patients with mucopolysaccharidosis IIIC: two novel mutations in the HGSNAT gene.

PMID 20825431 2011 Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles.

PMID 19823584 2009 Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C.

PMID 19479962 2009 Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene.

PMID 20583299 2010 Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome).

PMID 17397050 2007 Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online.

rs1085307880 in HGSNAT gene and RETINITIS PIGMENTOSA 73 PMID 17397050 2007 Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online.

PMID 19479962 2009 Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene.

PMID 20583299 2010 Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome).

PMID 19823584 2009 Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C.

PMID 17033958 2006 Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).

PMID 20825431 2011 Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles.

PMID 18024218 2008 Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands.

PMID 25859010 2015 Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT).

PMID 23301227 2013 The first Korean case of mucopolysaccharidosis IIIC (Sanfilippo syndrome type C) confirmed by biochemical and molecular investigation.

rs112029032 in HGSNAT gene and Retinal Dystrophies PMID 17033958 2006 Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).

PMID 19479962 2009 Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene.