HGSNAT (heparan-alpha-glucosaminide N-acetyltransferase)

2014-08-01  

Identity

HGNC
LOCATION
8p11.21
LOCUSID
ALIAS
HGNAT,MPS3C,RP73,TMEM76
FUSION GENES

Other Information

Locus ID:

NCBI: 138050
MIM: 610453
HGNC: 26527
Ensembl: ENSG00000165102

Variants:

dbSNP: 138050
ClinVar: 138050
TCGA: ENSG00000165102
COSMIC: HGSNAT

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000165102ENST00000379644Q68CP4
ENSG00000165102ENST00000517319E5RH11
ENSG00000165102ENST00000520704E5RJC4
ENSG00000165102ENST00000521576E5RJN0
ENSG00000165102ENST00000522082E5RGH7
ENSG00000165102ENST00000524016H0YAZ0

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90

Pathways

PathwaySourceExternal ID
Glycosaminoglycan degradationKEGGko00531
Glycosaminoglycan degradationKEGGhsa00531
LysosomeKEGGko04142
LysosomeKEGGhsa04142
Metabolic pathwaysKEGGhsa01100
Heparan sulfate degradationKEGGhsa_M00078
Heparan sulfate degradationKEGGM00078
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
198235842009Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C.27
169608112006Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C).22
170339582006Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).22
258590102015Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT).17
206508892010Analysis of the biogenesis of heparan sulfate acetyl-CoA:alpha-glucosaminide N-acetyltransferase provides insights into the mechanism underlying its complete deficiency in mucopolysaccharidosis IIIC.14
173970502007Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online.10
208254312011Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles.8
219574682011Characterization of the biosynthesis, processing and kinetic mechanism of action of the enzyme deficient in mucopolysaccharidosis IIIC.7
185188862008Molecular characterization of Portuguese patients with mucopolysaccharidosis IIIC: two novel mutations in the HGSNAT gene.6
205832992010Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome).6

Citation

Dessen P

HGSNAT (heparan-alpha-glucosaminide N-acetyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54360/hgsnat