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Browse our anti-HGSNAT (HGSNAT) Antibodies

Full name:: anti-Heparan-alpha-Glucosaminide N-Acetyltransferase Antibodies (HGSNAT)

On www.antibodies-online.com are 9 Heparan-alpha-Glucosaminide N-Acetyltransferase (HGSNAT) Antibodies from 5 different suppliers available. Additionally we are shipping HGSNAT Proteins (5) and HGSNAT Kits (2) and many more products for this protein. A total of 19 HGSNAT products are currently listed.

Synonyms:: 9430010M12Rik, AW208455, D8Ertd354e, HGNAT, MPS3C, RGD1560755, T1G16.60, T1G16_60, TMEM76

list all antibodies	Gene Name	GeneID	UniProt
	HGSNAT	52120	Q3UDW8
	HGSNAT	138050	Q68CP4
	HGSNAT
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2 WB Antibodies

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Relevant Pathways for anti-HGSNAT Antibodies

Glycosaminoglycan Metabolic Process

More product categories related to HGSNAT Antibody

Top referenced anti-HGSNAT Antibodies

Human Polyclonal HGSNAT Primary Antibody for IHC, IHC (p) - ABIN4317275 : Matos, Canals, Dridi, Choi, Prata, Jordan, Desviat, Pérez, Pshezhetsky, Grinberg, Alves, Vilageliu: Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations. in Orphanet journal of rare diseases 2015 (PubMed)

More Antibodies against HGSNAT Interaction Partners

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

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
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
three patients with mucopolysaccharidosis IIIC harbored two different mutations c.525dupT and c.372-2A-->G (Table 1), both of which were previously unreported

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) antibody
heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT) antibody
heparan-alpha-glucosaminide N-acetyltransferase (hgsnat) antibody
heparan-alpha-glucosaminide N-acetyltransferase-like protein (DUF1624) (AT5G27730) antibody
heparan-alpha-glucosaminide n-acetyltransferase (Celal_1346) antibody
Heparan-alpha-glucosaminide N-acetyltransferase (Celly_1273) antibody
Heparan-alpha-glucosaminide N-acetyltransferase (Mahau_2889) antibody

9430010M12Rik antibody
AW208455 antibody
D8Ertd354e antibody
HGNAT antibody
MPS3C antibody
RGD1560755 antibody
T1G16.60 antibody
T1G16_60 antibody
TMEM76 antibody

Protein level used designations for HGSNAT

transmembrane protein 76 , heparan-alpha-glucosaminide N-acetyltransferase , Heparan-alpha-glucosaminide N-acetyltransferase-like , heparan-alpha-glucosaminide n-acetyltransferase , Heparan-alpha-glucosaminide N-acetyltransferase , RGD1560755 protein-like

GENE ID	SPECIES
52120	Mus musculus
138050	Homo sapiens
422490	Gallus gallus
464155	Pan troglodytes
482833	Canis lupus familiaris
511607	Bos taurus
100033053	Monodelphis domestica
100355407	Oryctolagus cuniculus
100403479	Callithrix jacchus
100447325	Pongo abelii
100485725	Xenopus (Silurana) tropicalis
832835	Arabidopsis thaliana
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
100734837	Cavia porcellus

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Show all anti-Heparan-alpha-Glucosaminide N-Acetyltransferase (HGSNAT) Antibodies with Pubmed References

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

Antigen Summary

Alternative names and synonyms associated with HGSNAT

Protein level used designations for HGSNAT