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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Family Member
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1
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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 |
5.55 |
| Passage Frozen |
6 |
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
NAGLU |
| Chromosomal Location |
17q21 |
| Allelic Variant 1 |
E153K; MUCOPOLYSACCHARIDOSIS TYPE IIIB |
| Identified Mutation |
GLU153LYS |
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| Gene |
NAGLU |
| Chromosomal Location |
17q21 |
| Allelic Variant 2 |
E153K; MUCOPOLYSACCHARIDOSIS TYPE IIIB |
| Identified Mutation |
GLU153LYS |
| Remarks |
Deficient N-acetyl-alpha-D glucosaminidase; similarly affected brother; donor subject is homozygous for a G>A transversion at nucleotide 457 of the NAGLU gene (457G>A) resulting in the substitution of lysine for glutamic acid at codon 153 [Glu153Lys (E153K)] |
| Vargas-López V, Prada LF, Alméciga-Díaz CJ, Evidence of epigenetic landscape shifts in mucopolysaccharidosis IIIB and IVA Scientific reports14:3961 2023 |
| PubMed ID: 38368436 |
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| Huang W, Cheng YS, Yang S, Swaroop M, Xu M, Huang W, Zheng W, Disease modeling for Mucopolysaccharidosis type IIIB using patient derived induced pluripotent stem cells Experimental cell research14:112785 2021 |
| PubMed ID: 34411609 |
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| Huang W, Xu M, Li R, Baskfield A, Kouznetsova J, Beers J, Zou J, Liu C, Zheng W, An induced pluripotent stem cell line (TRNDi006-A) from a MPS IIIB patient carrying homozygous mutation of pGlu153Lys in the NAGLU gene Stem cell research37:101427 2019 |
| PubMed ID: 30933722 |
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| 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: 13777 |
| 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 |
| Cumulative PDL at Freeze |
5.55 |
| Passage Frozen |
6 |
| Split Ratio |
1:4 |
| 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 |
| Substrate |
None specified |
| Supplement |
- |
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