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Heparan-alpha-Glucosaminide N-Acetyltransferase ELISA Kits (HGSNAT)
On are 2 Heparan-alpha-Glucosaminide N-Acetyltransferase (HGSNAT) ELISA Kits from 1 different suppliers available. Additionally we are shipping HGSNAT Antibodies (11) and HGSNAT Proteins (5) and many more products for this protein. A total of 21 HGSNAT products are currently listed.
9430010M12Rik, AW208455, D8Ertd354e, HGNAT, MPS3C, T1G16.60, T1G16_60, Tmem76
list all ELISA KIts Gene Name GeneID UniProt
HGSNAT 138050 Q68CP4

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Human Heparan-alpha-Glucosaminide N-Acetyltransferase (HGSNAT) interaction partners

  1. A homozygous variant in HGSNAT identified in two siblings with Kluver-Bucy syndrome and Mucopolysaccharidosis type IIIC.

  2. Promoter variants rs4523300 and rs149596192 did not have a measurable impact on HGSNAT enzyme activity in MPS IIIC patients carrying them.

  3. Mutation id HGSNAT is associated with non-syndromic retinitis pigmentosa .

  4. Identification of novel HGSNAT mutations in Sanfilippo syndrome type C Spanish patients.

  5. Characterization of the biosynthesis, processing and kinetic mechanism of heparin acetyl-CoA:alpha-glucosaminide N-acetyltransferase

  6. intralysosomal oligomerization and proteolytic cleavage as two steps crucial for functional activation of HGSNAT.

  7. Data suggests that mutations may function together to abolish HGSNAT activity.

  8. HGSNAT misfolding may have a role in mucopolysaccharidosis III type C

  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

  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

HGSNAT Antigen Profile

Antigen 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.

Alternative names and synonyms associated with HGSNAT

  • heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT) Elisa Kit
  • heparan-alpha-glucosaminide N-acetyltransferase (hgsnat) Elisa Kit
  • hypothetical protein (AT5G27730) Elisa Kit
  • Heparan-alpha-glucosaminide N-acetyltransferase (Slin_6587) Elisa Kit
  • Heparan-alpha-glucosaminide N-acetyltransferase (Slin_6602) Elisa Kit
  • heparan-alpha-glucosaminide n-acetyltransferase (Celal_1346) Elisa Kit
  • Heparan-alpha-glucosaminide N-acetyltransferase (Celly_1273) Elisa Kit
  • Heparan-alpha-glucosaminide N-acetyltransferase (Mahau_2889) Elisa Kit
  • heparan-alpha-glucosaminide N-acetyltransferase (Hgsnat) Elisa Kit
  • 9430010M12Rik Elisa Kit
  • AW208455 Elisa Kit
  • D8Ertd354e Elisa Kit
  • HGNAT Elisa Kit
  • MPS3C Elisa Kit
  • T1G16.60 Elisa Kit
  • T1G16_60 Elisa Kit
  • Tmem76 Elisa Kit

Protein level used designations for HGSNAT

heparan-alpha-glucosaminide N-acetyltransferase , Heparan-alpha-glucosaminide N-acetyltransferase-like , transmembrane protein 76 , Heparan-alpha-glucosaminide N-acetyltransferase , heparan-alpha-glucosaminide n-acetyltransferase

422490 Gallus gallus
464155 Pan troglodytes
482833 Canis lupus familiaris
511607 Bos taurus
738109 Pan troglodytes
100033053 Monodelphis domestica
100355407 Oryctolagus cuniculus
100403479 Callithrix jacchus
100447325 Pongo abelii
100485725 Xenopus (Silurana) tropicalis
832835 Arabidopsis thaliana
8730373 Spirosoma linguale DSM 74
8730388 Spirosoma linguale DSM 74
10143737 Cellulophaga algicola DSM 14237
10263284 Cellulophaga lytica DSM 7489
10609661 Mahella australiensis 50-1 BON
100540377 Meleagris gallopavo
100567269 Anolis carolinensis
100606132 Nomascus leucogenys
138050 Homo sapiens
52120 Mus musculus
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