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ENHuman
NAGLU - N-acetyl-alpha-glucosaminidase
Alias:
NAG
CMT2V
MPS3B
UFHSD
MPS-IIIB
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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. [provided by RefSeq, Jul 2008]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
NAGLU Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Mutations
Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Alphabetical
Cell-specific RNA expression
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MGI
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References Literature
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