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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Ethnicity
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JEWISH
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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 |
5.17 |
| Passage Frozen |
7 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| Gene |
NAGLU |
| Chromosomal Location |
17q21 |
| Allelic Variant 1 |
P358L; MUCOPOLYSACCHARIDOSIS TYPE IIIB |
| Identified Mutation |
PRO358LEU |
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| Gene |
NAGLU |
| Chromosomal Location |
17q21 |
| Allelic Variant 2 |
P358L; MUCOPOLYSACCHARIDOSIS TYPE IIIB |
| Identified Mutation |
PRO358LEU |
| Remarks |
Ashkenazi; clinically affected; donor subject is homozygous for a C>T transversion at nucleotide 1073 of the NAGLU gene (1073C>T) resulting in a substitution of leucine for proline at codon 358 [Pro358Leu (P358L)] |
| 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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| Prill H, Luu A, Yip B, Holtzinger J, Lo MJ, Christianson TM, Yogalingam G, Aoyagi-Scharber M, LeBowitz JH, Crawford BE, Lawrence R, Differential Uptake of NAGLU-IGF2 and Unmodified NAGLU in Cellular Models of Sanfilippo Syndrome Type B Molecular therapy Methods & clinical development14:56-63 2018 |
| PubMed ID: 31309128 |
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| Vallejo-Diez S, Fleischer A, Martín-Fernández JM, Sánchez-Gilabert A, Bachiller D, Generation of two induced pluripotent stem cells lines from a Mucopolysaccharydosis IIIB (MPSIIIB) patient Stem cell research33:180-184 2018 |
| PubMed ID: 30408744 |
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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: 16692 |
| 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 |
7 |
| Split Ratio |
1:2 |
| 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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