N-Acetylglucosaminidase, Alpha-

Alternative Names

NAGLU
N-Acetyl-Alpha-D-Glucosaminidase
N-Acetyl-Alpha-Glucosaminidase

Length

10,212 bases

No. of Exons

No. of isoforms

Protein Name

Alpha-N-acetylglucosaminidase

Molecular Mass

82266 Da

Amino Acid Count

743

Genomic Location

chr17:42,534,237-42,544,448

Gene Map Locus

17q21.2

Description

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. [From RefSeq]

Epidemiology in the Arab World

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_000263.4:c.1694G>T	United Arab Emirates	NC_000017.11:g.42543700G>T	Pathogenic, Uncertain Significance	Pathogenic	Mucopolysaccharidosis Type IIIB	NG_011552.1:g.12768G>T; NM_000263.4:c.1694G>T; NP_000254.2:p.Arg565Leu	104894598	557013
NM_000263.4:c.889C>T	Saudi Arabia	NC_000017.11:g.42541074C>T	Likely Pathogenic, Pathogenic	Pathogenic	Mucopolysaccharidosis Type IIIB	NG_011552.1:g.10142C>T; NM_000263.4:c.889C>T; NP_000254.2:p.Arg297Ter	104894592	1562
NM_000263.4:c.934G>A	Jordan	NC_000017.11:g.42541119G>A	Likely Pathogenic, Pathogenic, Uncertain Significance	Likely Pathogenic	Mucopolysaccharidosis Type IIIB	NG_011552.1:g.10187G>A; NM_000263.4:c.934G>A; NP_000254.2:p.Asp312Asn	1052471595	437446

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External Links

https://medlineplus.gov/genetics/gene/naglu/ https://www.genecards.org/cgi-bin/carddisp.pl?gene=naglu

Contributors

Pratibha Nair: 13.09.2023
Asha Deepthi: 03.02.2022
Pratibha Nair: 27.09.2021
Sayeeda Hana: 24.09.2021

Edit History

Pratibha Nair: 13.09.2023
Asha Deepthi: 03.02.2022
Pratibha Nair: 27.09.2021
Sayeeda Hana: 24.09.2021

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