Description:
MUCOPOLYSACCHARIDOSIS TYPE IIIB
N-ACETYLGLUCOSAMINIDASE, ALPHA-; NAGLU
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of Carbohydrate Metabolism |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| PDL at Freeze |
5.49 |
| Passage Frozen |
5 |
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| alpha-N-acetylglucosaminidase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.50 |
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| Gene |
NAGLU |
| Chromosomal Location |
17q21 |
| Allelic Variant 1 |
L682R; MUCOPOLYSACCHARIDOSIS TYPE IIIB |
| Identified Mutation |
LEU682ARG |
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| Gene |
NAGLU |
| Chromosomal Location |
17q21 |
| Allelic Variant 2 |
Y140C; MUCOPOLYSACCHARIDOSIS TYPE IIIB |
| Identified Mutation |
TYR140CYS |
| Remarks |
Deficient N-acetyl-alpha-glucosaminidase; donor subject is a compound heterozygote: one allele has a T>G transversion at nucleotide 2045 in the NAGLU gene (2045T>G) resulting in the substitution of arginine for leucine at codon 682 [Leu682Arg (L682R)]and the second allele has an A>G transversion at nucleotide 419 (419A>G) resulting in a substitution of cysteine for tyrosine at codon 140 [Try140Cys (Y140C)] |
| Schmidtchen A, Greenberg D, Zhao HG, Li HH, Huang Y, Tieu P, Zhao HZ, Cheng S, Zhao Z, Whitley CB, Di Natale P, Neufeld EF, NAGLU mutations underlying Sanfilippo syndrome type B American journal of human genetics62:64-9 1998 |
| PubMed ID: 9443878 |
| dbSNP |
dbSNP ID: 17981 |
| Gene Cards |
NAGLU |
| Gene Ontology |
GO:0004561 alpha-N-acetylglucosaminidase activity |
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GO:0005764 lysosome |
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GO:0005975 carbohydrate metabolism |
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GO:0007399 neurogenesis |
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GO:0016798 hydrolase activity, acting on glycosyl bonds |
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GO:0030203 glycosaminoglycan metabolism |
| NCBI Gene |
Gene ID:4669 |
| NCBI GTR |
252920 MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B |
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609701 N-ACETYLGLUCOSAMINIDASE, ALPHA-; NAGLU |
| OMIM |
252920 MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B |
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609701 N-ACETYLGLUCOSAMINIDASE, ALPHA-; NAGLU |
| Omim Description |
MPS IIIB |
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MUCOPOLYSACCHARIDOSIS TYPE IIIB |
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N-ACETYL-ALPHA-D-GLUCOSAMINIDASE DEFICIENCY |
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N-ACETYLGLUCOSAMINIDASE, ALPHA-, INCLUDED |
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NAG POLYMORPHISM, INCLUDED |
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NAGLU DEFICIENCYN-ACETYL-ALPHA-D-GLUCOSAMINIDASE POLYMORPHISM, INCLUDED |
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NAGLU, INCLUDED |
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SANFILIPPO SYNDROME B |
| Passage Frozen |
5 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
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