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Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


HGSNAT heparan-alpha-glucosaminide N-acetyltransferase [Homo sapiens (human)]


RefSeq Accession Definition Services Price Order
NM_152419 Homo sapiens heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT), mRNA. ORF Sequence $553.32
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Gene Symbol HGSNAT
Entrez Gene ID 138050
Full Name heparan-alpha-glucosaminide N-acetyltransferase
Synonyms DKFZp686G24175, FLJ22242, FLJ32731, HGNAT, MPS3C, TMEM76
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

8

8p11.1

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. [provided by RefSeq, Jan 2009].
Disorder

MIM: 610453

Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 (3)

mRNA Protein Product Sequence Price Select
NM_152419, 150378451 NP_689632, 150378452 heparan-alpha-glucosaminide N-acetyltransferase Full Length $2352.60
ORF Sequence $553.32
KEGG
hsa_M00078Heparan sulfate degradation
M00078Heparan sulfate degradation
hsa04142Lysosome
hsa00531Glycosaminoglycan degradation
Homo sapiens (human)HGSNATNP_689632.2
Pan troglodytes (chimpanzee)HGSNATXP_519741.3
Macaca mulatta (Rhesus monkey)LOC720331XP_001115683.2
Canis lupus familiaris (dog)HGSNATXP_539948.3
Bos taurus (cattle)HGSNATXP_002698775.1
Mus musculus (house mouse)HgsnatNP_084160.1
Gallus gallus (chicken)HGSNATXP_420455.3
Danio rerio (zebrafish)si:dkey-192p21.6NP_001139059.1
Drosophila melanogaster (fruit fly)CG6903NP_572198.1
Arabidopsis thaliana (thale cress)AT5G27730NP_568500.1
GeneCards HGSNAT
UniProt Q68CP4, Q8IVU6
MIM 610453
Ensembl ENSG00000165102
HGNC 26527

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

Preferred Names
heparan-alpha-glucosaminide N-acetyltransferase
Names
heparan-alpha-glucosaminide N-acetyltransferase
transmembrane protein 76
NP_689632.2

Interactant

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