Selected-GenAtlas references | SOURCE | GeneCards | NCBI Gene | Swiss-Prot | Orphanet | Ensembl |
HGNC | UniGene | Nucleotide | OMIM | UCSC |
Home Page |
FLASH GENE |
Symbol | NAGLU | contributors: mct/npt - updated : 26-06-2009 |
HGNC name | N-acetylglucosaminidase, alpha- |
HGNC id | 7632 |
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ASSOCIATED DISORDERS |
corresponding disease(s) | MPS3B |
related resource | Mucopolysaccharidosis |
Susceptibility |
Variant & Polymorphism | |
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Candidate gene | |
Marker | |
Therapy target | immune responses contribute greatly to the neuropathology of MPS3B and should be considered as an adjunct treatment in future therapeutic developments for optimal therapeutic effect (DiRosario 2009) |
ANIMAL & CELL MODELS |
in mouse model of MPS III B, neurons and microglia display the characteristic vacuolation of lysosomal storage of undegraded substrate, but neurons in the medial entorhinal cortex (MEC) display accumulation of several additional substances (OHMI 2009) |