Description:
MUCOPOLYSACCHARIDOSIS TYPE IIIB
N-ACETYLGLUCOSAMINIDASE, ALPHA-; NAGLU
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of Carbohydrate Metabolism |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Molecular characterization after cell line submission to CCR
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
7 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| alpha-N-acetylglucosaminidase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.50 |
| |
| Gene |
NAGLU |
| Chromosomal Location |
17q21 |
| Allelic Variant 1 |
609701.0003; MUCOPOLYSACCHARIDOSIS TYPE IIIB |
| Identified Mutation |
ARG297TER; In a cell line from a patient with Sanfilippo syndrome type B, GM02552, Zhao et al. [Proc. Natl. Acad. Sci. USA 93:6101-6105 (1996)] identified compound heterozygosity; one of the alleles had a C to T transition at nucleotide 889, resulting in a stop in lieu of arginine at codon 297 (R297X). |
| |
| Gene |
NAGLU |
| Chromosomal Location |
17q21 |
| Allelic Variant 2 |
609701.0004; MUCOPOLYSACCHARIDOSIS TYPE IIIB |
| Identified Mutation |
ARG643HIS; In a cell line from a patient with Sanfilippo syndrome type B, GM02552, Zhao et al. [Proc. Natl. Acad. Sci. USA 93:6101-6105 (1996)] identified compound heterozygosity; one of the alleles had a G to A transition and a substitution of histidine for arginine at codon 643 (R643H).
|
| Remarks |
Deficient N-acetyl-alpha-glucosaminidase; increased urinary heparan sulfate; compound heterozygote; one allele carries a C>T transition in nucleotide 889 (889C>T) in the NAGLU gene, resulting in a stop codon at codon 297 [Arg297ter(R297X)]; the second allele has a mutation resulting in a substitution of histidine for arginine at codon 643 [Arg643His(R643H)] |
| Xu M, Liu K, Swaroop M, Sun W, Dehdashti SJ, McKew JC, Zheng W, A phenotypic compound screening assay for lysosomal storage diseases Journal of biomolecular screening19:168-75 2013 |
| PubMed ID: 23983233 |
| |
| Xu M1, Liu K, Swaroop M, Porter FD, Sidhu R, Firnkes S, Ory DS, Marugan JJ, Xiao J, Southall N, Pavan WJ, Davidson C, Walkley SU, Remaley AT, Baxa U, Sun W, McKew JC, Austin CP, Zheng W., δ-Tocopherol reduces lipid accumulation in Niemann-Pick type C1 and Wolman cholesterol storage disorders. J Biol Chem287(47):39349-60 2012 |
| PubMed ID: 23035117 |
| |
| Zhao HG, Li HH, Bach G, Schmidtchen A, Neufeld EF, The molecular basis of Sanfilippo syndrome type B. Proc Natl Acad Sci U S A93:6101-5 1996 |
| PubMed ID: 8650226 |
| |
| Di Natale P, Murino P, Pontarelli G, Salvatore D, Andria G, Sanfilippo B syndrome (MPS III B): altered residual alpha-N- acetylglucosaminidase activity in an unusual sibship. Clin Chim Acta122:135-43 1982 |
| PubMed ID: 6809360 |
| |
| Varki A, Kornfeld S, Identification of a rat liver alpha-N-acetylglucosaminyl phosphodiesterase capable of removing "blocking" alpha-N- acetylglucosamine residues from phosphorylated high mannose oligosaccharides of lysosomal enzymes. J Biol Chem255:8398-401 1980 |
| PubMed ID: 6251056 |
| dbSNP |
dbSNP ID: 17888 |
| Gene Cards |
NAGLU |
| Gene Ontology |
GO:0004561 alpha-N-acetylglucosaminidase activity |
|
GO:0005764 lysosome |
|
GO:0005975 carbohydrate metabolism |
|
GO:0007399 neurogenesis |
|
GO:0016798 hydrolase activity, acting on glycosyl bonds |
|
GO:0030203 glycosaminoglycan metabolism |
| NCBI Gene |
Gene ID:4669 |
| NCBI GTR |
252920 MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B |
|
609701 N-ACETYLGLUCOSAMINIDASE, ALPHA-; NAGLU |
| OMIM |
252920 MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B |
|
609701 N-ACETYLGLUCOSAMINIDASE, ALPHA-; NAGLU |
| Omim Description |
MPS IIIB |
| |
MUCOPOLYSACCHARIDOSIS TYPE IIIB |
| |
N-ACETYL-ALPHA-D-GLUCOSAMINIDASE DEFICIENCY |
| |
N-ACETYLGLUCOSAMINIDASE, ALPHA-, INCLUDED |
| |
NAG POLYMORPHISM, INCLUDED |
| |
NAGLU DEFICIENCYN-ACETYL-ALPHA-D-GLUCOSAMINIDASE POLYMORPHISM, INCLUDED |
| |
NAGLU, INCLUDED |
| |
SANFILIPPO SYNDROME B |
| Passage Frozen |
7 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Ham's F12 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
|
|