KEGG   VARIANT: 138050v1
Entry
138050v1                      Variant                              
Name
HGSNAT deficiency
Type
Loss of function
Gene
HGSNAT  heparan-alpha-glucosaminide N-acetyltransferase isoform 2 precursor [KO:K10532]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 610453
Network
nt06012  Glycosaminoglycan degradation
nt06551  Lysosome
Disease
H00130  Mucopolysaccharidosis type III
H00527  Retinitis pigmentosa
Reference
  Authors
Feldhammer M, Durand S, Mrazova L, Boucher RM, Laframboise R, Steinfeld R, Wraith JE, Michelakakis H, van Diggelen OP, Hrebicek M, Kmoch S, Pshezhetsky AV
  Title
Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene.
  Journal
Hum Mutat 30:918-25 (2009)
DOI:10.1002/humu.20986
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