| Protein Name | N-acetyl-alpha-glucosaminidase |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 4669 |
| Gene Symbol | NAGLU |
| UniProt | P54802 (ANAG_HUMAN), A0A140VJE4 (A0A140VJE4_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
273
Total Number of Articles : 275 |
Description |
N-acetyl-alpha-glucosaminidase |
| Gene Summary |
This gene encodes an enzyme that degrades heparan sulfate by hydrolysis of terminal N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides. Defects in this gene are the cause of mucopolysaccharidosis type IIIB (MPS-IIIB), also known as Sanfilippo syndrome B. This disease is characterized by the lysosomal accumulation and urinary excretion of heparan sulfate. [provided by RefSeq, Jul 2008] |
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| Properties | |