2.3.1.78: heparan-alpha-glucosaminide N-acetyltransferase
This is an abbreviated version!
For detailed information about heparan-alpha-glucosaminide N-acetyltransferase, go to the full flat file.
Word Map on EC 2.3.1.78
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2.3.1.78
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lysosomal
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mucopolysaccharidosis
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sanfilippo
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glycosaminoglycans
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naglu
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alpha-n-acetylglucosaminidase
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medicine
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sulfamidase
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n-acetylglucosamine-6-sulfatase
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splice-site
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facies
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nonsyndromic
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pigmentosa
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analysis
- 2.3.1.78
- lysosomal
- mucopolysaccharidosis
-
sanfilippo
- glycosaminoglycans
- naglu
- alpha-n-acetylglucosaminidase
- medicine
-
sulfamidase
- n-acetylglucosamine-6-sulfatase
-
splice-site
-
facies
-
nonsyndromic
- pigmentosa
- analysis
Reaction
Synonyms
acetyl-CoA:alpha-glucosaminide N-acetyltransferase, acetyl-coenzyme A-alpha-glucosaminide N-acetyltransferase, acetyl-coenzyme A:alpha-glucosaminide N-acetyltransferase, acetyl-coenzyme:alpha-D-2-amino-glucosamine transferase, acetyltransferase, alpha-glucosaminide, acetyl–coenzyme A:alpha-glucosaminide N-acetyltransferase, GNAT, heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase, heparan sulfate acetyl-CoA:alpha-glucosaminide N-acetyltransferase, HGSNAT, TMEM76, transmembrane protein 76
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Source Tissue
Source Tissue on EC 2.3.1.78 - heparan-alpha-glucosaminide N-acetyltransferase
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from primary skin fibroblasts, wild-type SF4528 and KD8, and MPS IIIC mutants thereof
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deficiency on leukocytes from patients with Sanfillippo syndrome type C
additional information
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immortalization of cell lines, the cells retain the mucopolysaccharidosis type IIIC phenotype, overview
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deficiency on fibroblasts from patients with Sanfillippo syndrome type C
the enzyme is present in the lysosomal membranes purified from the normal human skin fibroblasts, but absent in those from the skin fibroblasts of patients with mucopolysaccharidosis IIIC