The enzyme α-N-acetylglucosaminidase (EC 3.2.1.50, α-acetylglucosaminidase, N-acetyl-α-D-glucosaminidase, N-acetyl-α-glucosaminidase, α-D-2-acetamido-2-deoxyglucosidase) is a protein associated with Sanfilippo syndrome, with systematic name α-N-acetyl-D-glucosaminide N-acetylglucosaminohydrolase.[2][3][4][5] It catalyses the hydrolysis of terminal non-reducing N-acetyl-D-glucosamine residues in N-acetyl-α-D-glucosaminides, and also UDP-N-acetylglucosamine.
| α-N-acetylglucosaminidase | |||||||
|---|---|---|---|---|---|---|---|
 | |||||||
| Identifiers | |||||||
| Symbol | NAGLU | ||||||
| NCBI gene | 4669 | ||||||
| HGNC | 7632 | ||||||
| OMIM | 609701 | ||||||
| RefSeq | NM_000263 | ||||||
| UniProt | P54802 | ||||||
| Other data | |||||||
| EC number | 3.2.1.50 | ||||||
| Locus | Chr. 17 q11-q21 | ||||||
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References
edit- ^ Birrane, Gabriel; Dassier, Anne-Laure; Romashko, Alla; Lundberg, Dianna; Holmes, Kevin; Cottle, Thomas; Norton, Angela W.; Zhang, Bohong; Concino, Michael F.; Meiyappan, Muthuraman (2019). "Structural characterization of the α-N-acetylglucosaminidase, a key enzyme in the pathogenesis of Sanfilippo syndrome B". Journal of Structural Biology. 205 (3): 65–71. doi:10.1016/j.jsb.2019.02.005. PMID 30802506. S2CID 73482664.
- ^ von Figura K (November 1977). "Human α-N-acetylglucosaminidase. 1. Purification and properties". European Journal of Biochemistry. 80 (2): 523–533. doi:10.1111/j.1432-1033.1977.tb11908.x. PMID 411658.
- ^ von Figura K (November 1977). "Human α-N-acetylglucosaminidase. 2. Activity towards natural substrates and multiple recognition forms". European Journal of Biochemistry. 80 (2): 535–542. doi:10.1111/j.1432-1033.1977.tb11909.x. PMID 923593.
- ^ Weissmann B, Rowin G, Marshall J, Friederici D (January 1967). "Mammalian α-acetylglucosaminidase. Enzymic properties, tissue distribution, and intracellular localization". Biochemistry. 6 (1): 207–214. doi:10.1021/bi00853a033. PMID 4291567.
- ^ Werries E, Wollek E, Gottschalk A, Buddecke E (October 1969). "Separation of N-acetyl-α-glucosaminidase and N-acetyl-α-galactosaminidase from ox spleen. Cleavage of the O-glycosidic linkage between carbohydrate and polypeptide in ovine and bovine submaxillary glycoprotein by N-acetyl-α-galactosaminidase". European Journal of Biochemistry. 10 (3): 445–449. doi:10.1111/j.1432-1033.1969.tb00709.x. PMID 5348072.
External links
edit- alpha-N-acetyl-D-glucosaminidase at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
