This report describes a potential model of mucopolysaccharidosis type IIIB (MPS3B), which is a subtype of mucopolysaccharidosis; MPS3B exhibits autosomal recessive inheritance. The gene implicated in this disease is NAGLU, which is involved in the degradation of heparan sulfate. There is a single orthologous gene in Drosophila, CG13397 for which an amorphic allele created by targeted recombination, RNAi-targeting constructs, and alleles caused by insertional mutagenesis have been generated.
The human NAGLU gene has not been introduced into flies.
A human disease model report has been created for this potential model because variants analogous to disease-implicated mutations in the human AGL gene have been introduced into Dmel\CG13397 by homologous recombination; however, they have not yet been characterized. Variant(s) implicated in human disease introduced (as analogous mutation in fly gene): W422stop in the fly CG13397 gene (corresponds to W404stop in the human NAGLU gene); Y160C in the fly CG13397 gene (corresponds to Y140C in the human NAGLU gene). A large number of physical interactions have been described for CG13397; see below and in the CG13397 gene report.
[updated Nov. 2019 by FlyBase; FBrf0222196]
Lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine (DOID:12798)
The mucopolysaccharidoses are a group of inherited disorders caused by a lack of specific lysosomal enzymes involved in the degradation of glycosaminoglycans (GAGs), or mucopolysaccharides. The accumulation of partially degraded GAGs causes interference with cell, tissue, and organ function. [from MIM:607014; 2018.07.20]
[MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B](https://omim.org/entry/252920)
[N-ACETYLGLUCOSAMINIDASE, ALPHA-; NAGLU](https://omim.org/entry/609701)
Mucopolysaccharidosis type IIIB (Sanfilippo syndrome B) is an autosomal recessive lysosomal storage disorder characterized by the accumulation of heparan sulfate. Clinically, patients have progressive neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span. The clinical severity ranges from mild to severe (Chinen et al., 2005; pubmed:15933803). [from MIM:252920; 2019.11.04]
Mucopolysaccharidosis type IIIB is caused by homozygous or compound heterozygous mutation in the gene encoding N-alpha-acetylglucosaminidase (NAGLU). [from MIM:252920; 2019.11.04]
Mucopolysaccharidosis type IIIB is characterized by the lysosomal accumulation and urinary excretion of heparan sulfate. [Gene Cards, NAGLU; 2019.11.04]
NAGLU encodes an enzyme involved in the degradation of heparan sulfate. [Gene Cards, NAGLU; 2019.11.04]
One to one: 1 human to 1 Drosophila.
High-scoring ortholog of human NAGLU gene (1 Drosophila to 1 human). Dmel\CG13397 shares 40% identity and 56% similarity with the human gene.
