EC Number   |
Natural Substrates |
|---|
   2.3.1.78 | acetyl-CoA + heparan sulfate alpha-D-glucosaminide |
- |
| 2.3.1.78 | acetyl-CoA + heparan sulfate alpha-D-glucosaminide |
initial step in heparan sulfate degradation |
| 2.3.1.78 | acetyl-CoA + heparan sulfate alpha-D-glucosaminide |
mucopolysaccharidosis IIIC (MPS IIIC, or Sanfilippo C syndrome) is a lysosomal storage disorder caused by the inherited deficiency of the lysosomal membrane enzyme acetyl-coenzyme A:alpha-glucosaminide N-acetyltransferase, which leads to impaired degradation of heparan sulfate. Structural protein that transports the activated acetyl residues across the cell membrane |
| 2.3.1.78 | more |
enzyme deficiency leads to Sanfilippo syndrome type C, i.e. mucopolysaccharidosis III C |
| 2.3.1.78 | more |
enzyme is acetylated at the cytoplasmic side of the lysosome and the acetyl group is then transferred to the inside where it is used to acetylate heparan sulfate |
| 2.3.1.78 | more |
enzyme deficiency causes mucopolysaccharidosis type IIIC |
