HGSNAT Antibody

1. A homozygous variant in HGSNAT identified in two siblings with Kluver-Bucy syndrome and Mucopolysaccharidosis type IIIC. PMID: 27827379
2. Promoter variants rs4523300 and rs149596192 did not have a measurable impact on HGSNAT enzyme activity in MPS IIIC patients carrying them. PMID: 27452122
3. Mutation id HGSNAT is associated with non-syndromic retinitis pigmentosa . PMID: 25859010
4. Identification of novel HGSNAT mutations in Sanfilippo syndrome type C Spanish patients. PMID: 20825431
5. Characterization of the biosynthesis, processing and kinetic mechanism of heparin acetyl-CoA:alpha-glucosaminide N-acetyltransferase PMID: 21957468
6. intralysosomal oligomerization and proteolytic cleavage as two steps crucial for functional activation of HGSNAT. PMID: 20650889
7. Data suggests that mutations may function together to abolish HGSNAT activity. PMID: 20583299
8. HGSNAT misfolding may have a role in mucopolysaccharidosis III type C PMID: 19823584
9. 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 PMID: 16960811
10. 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 PMID: 17033958
11. mutational analysis of HGSNAT in Italian Sanfilippo C syndrome patients resulted in identification of 9 alleles (8 novel)-- 3 splice-site mutations, 3 frameshift deletions resulting in premature stop codons, 1 nonsense mutation & 2 missense mutations PMID: 17397050
12. three patients with mucopolysaccharidosis IIIC harbored two different mutations c.525dupT and c.372-2A-->G (Table 1), both of which were previously unreported PMID: 18518886

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HGNC: 26527

OMIM: 252930

KEGG: hsa:138050

STRING: 9606.ENSP00000368965

UniGene: Hs.600384