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A homozygous variant in HGSNAT identified in two siblings with Kluver-Bucy syndrome and Mucopolysaccharidosis type IIIC.
Promoter variants rs4523300 and rs149596192 did not have a measurable impact on HGSNAT enzyme activity in MPS IIIC patients carrying them.
Mutation id HGSNAT is associated with non-syndromic retinitis pigmentosa .
Identification of novel HGSNAT mutations in Sanfilippo syndrome type C Spanish patients.
Characterization of the biosynthesis, processing and kinetic mechanism of heparin acetyl-CoA:alpha-glucosaminide N-acetyltransferase
intralysosomal oligomerization and proteolytic cleavage as two steps crucial for functional activation of HGSNAT.
Data suggests that mutations may function together to abolish HGSNAT activity.
HGSNAT misfolding may have a role in mucopolysaccharidosis III type C
gene encoding the enzyme deficient in mucopolysaccharidosis IIIC was identified as HGSNAT; mutational analyses identified a splice-junction mutation that accounted for three mutant alleles, and a single base-pair insertion accounted for the fourth
2.6-cM interval between D8S1051 and D8S1831 and identification of TMEM76, which encodes a 73-kDa protein with predicted multiple transmembrane domains and glycosylation sites, as the gene that causes MPS IIIC when it is mutated
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.
, Heparan-alpha-glucosaminide N-acetyltransferase-like
, transmembrane protein 76
, Heparan-alpha-glucosaminide N-acetyltransferase
, heparan-alpha-glucosaminide n-acetyltransferase