HGSNAT

GENE INFORMATION

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Gene name

HGSNAT (HGNC Symbol)

Synonyms

FLJ32731, HGNAT, TMEM76

Description

Heparan-alpha-glucosaminide N-acetyltransferase (HGNC Symbol)

Entrez gene 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]

Chromosome

8

Cytoband

p11.21

Chromosome location (bp)

42995556 - 43057998

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000165102 (version 75.37)

Entrez gene

138050

UniProt

Q68CP4 (UniProt - Evidence at protein level)

neXtProt

NX_Q68CP4

Antibodypedia

HGSNAT antibodies
 

PROTEIN VIEW

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HGSNAT-001
 
HGSNAT-002
 
HGSNAT-003
 
HGSNAT-005
 
HGSNAT-006
 
HGSNAT-009
 
HGSNAT-201
 
HGSNAT-202
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

HGSNAT-001 ENSP00000368965
ENST00000379644
Q68CP4
Show all »
Show » Show » 635 70.5 Yes >9
HGSNAT-002 ENSP00000429109
ENST00000520704
E5RJC4
Show all »
Show » 172 18.9 No 1
HGSNAT-003 ENSP00000429029
ENST00000521576
E5RJN0
Show all »
Show » 352 38.9 No 6
HGSNAT-005 ENSP00000430032
ENST00000517319
E5RH11
Show all »
Show » 97 10.7 Yes 0
HGSNAT-006 ENSP00000430151
ENST00000522082
E5RGH7
Show all »
Show » 184 20 No 3
HGSNAT-009 ENSP00000428322
ENST00000524016
Show » 253 27.9 No 3
HGSNAT-201 ENSP00000297798
ENST00000297798
E7ET79
Show all »
Show » 367 40.6 No 6
HGSNAT-202 ENSP00000389524
ENST00000458501
Q68CP4
Show all »
Show » Show » 663 73.3 Yes >9