Symbol
Name
ID
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Genetic Map
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Chromosome 11
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Syntenic
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Mapping data(
1)
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Sequence Map
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Mammalian
homology
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Sequences
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All sequences(42)
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Alleles
and
phenotypes
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All alleles(1) :
Targeted, knock-out(1)
| Homozygotes for a targeted null mutation exhibit reduced open field activity, massive accumulation of heparan sulfate in kidney and liver, elevated gangliosides in brain, and presence of vacuoles in macrophages, epithelial cells, and neurons. |
Associated Human Diseases (1)
Alleles Annotated to Human Diseases (1)
Phenotype Images (6)
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Polymorphisms
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SNPs within 2kb(44 from dbSNP Build 128)
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Gene Ontology
(GO)
classifications
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Expression
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cDNA source data(48)
External Resources:
Allen Brain Atlas
GEO
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Molecular
reagents
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All nucleic(48)
cDNA(48)
Microarray probesets(2)
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Other database
links
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Protein
domains
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| InterPro ID |
Description |
| IPR007781 |
Alpha-N-acetylglucosaminidase |
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References
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(Earliest)
J:58950
Li HH et al.,
"Mouse model of Sanfilippo syndrome type B produced by targeted disruption of the gene encoding alpha-N-acetylglucosaminidase."
Proc Natl Acad Sci U S A 1999 Dec 7;96(25):14505-10
(Latest)
J:148534
Ohmi K et al.,
"Sanfilippo syndrome type B, a lysosomal storage disease, is also a tauopathy."
Proc Natl Acad Sci U S A 2009 May 19;106(20):8332-7
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All references(15)
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