HGSNAT 抗体
(Heparan-alpha-Glucosaminide N-Acetyltransferase (HGSNAT))
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].
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4 results
HGSNAT
适用: 人, 小鼠, 犬, 马, Cow, 豚鼠, 兔, 大鼠
WB
宿主: 兔
Polyclonal
unconjugated
1 image
Latest Publications for our HGSNAT 抗体
: "Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations." in: Orphanet journal of rare diseases, Vol. 9, pp. 180, (2015) (PubMed).Aliases for HGSNAT 抗体
heparan-alpha-glucosaminide N-acetyltransferase (Hgsnat) 抗体heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT) 抗体
heparan-alpha-glucosaminide N-acetyltransferase (hgsnat) 抗体
heparan-alpha-glucosaminide N-acetyltransferase-like protein (DUF1624) (AT5G27730) 抗体
heparan-alpha-glucosaminide n-acetyltransferase (Celal_1346) 抗体
Heparan-alpha-glucosaminide N-acetyltransferase (Celly_1273) 抗体
Heparan-alpha-glucosaminide N-acetyltransferase (Mahau_2889) 抗体
9430010M12Rik 抗体
AW208455 抗体
D8Ertd354e 抗体
HGNAT 抗体
MPS3C 抗体
RGD1560755 抗体
T1G16.60 抗体
T1G16_60 抗体
Tmem76 抗体
TMEM76 抗体
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