Description:
MUCOLIPIDOSIS II; ML2; ML II
N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, ALPHA/BETA SUBUNITS; GNPTAB
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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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2
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Relation to Proband
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mother
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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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| Passage Frozen |
6 |
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| Gene |
GNPTAB |
| Chromosomal Location |
12q23.3 |
| Allelic Variant 1 |
L730fsX737; MUCOLIPIDOSIS II |
| Identified Mutation |
2352delTinsAAA |
| Remarks |
Two affected children; heterozygote level of N-acetylglucosaminylphosphotransferase; clinically unaffected mother of GM03112G; GlcNAc-Phosphotransferase activity = 41% (measured as specific activity in cell lysate and reported as percentage of activity in normal fibroblasts); donor subject has one allele which has an insertion in exon 13 of the GNPTAB gene [2352delTinsAAA (2352T>AAA)] resulting in a frameshift and truncation of the protein in the alpha subunit and no beta subunit [L730fsX737]; first nucleotide of the transcript used as number 1 |
| Flint M, Chatterjee P, Lin DL, McMullan LK, Shrivastava-Ranjan P, Bergeron É, Lo MK, Welch SR, Nichol ST, Tai AW, Spiropoulou CF, A genome-wide CRISPR screen identifies N-acetylglucosamine-1-phosphate transferase as a potential antiviral target for Ebola virus Nature communications10:285 2018 |
| PubMed ID: 30655525 |
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| Kudo M, Brem MS, Canfield WM, Mucolipidosis II (I-Cell Disease) and Mucolipidosis IIIA (Classical Pseudo-Hurler Polydystrophy) Are Caused by Mutations in the GlcNAc-Phosphotransferase alpha / beta -Subunits Precursor Gene. Am J Hum Genet78(3):451-63 2006 |
| PubMed ID: 16465621 |
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| Varki A, Reitman ML, Vannier A, Kornfeld S, Grubb JH, Sly WS, Demonstration of the heterozygous state for I-cell disease and pseudo- Hurler polydystrophy by assay of N-acetylglucosaminylphosphotransferase in white blood cells and fibroblasts. Am J Hum Genet34:717-29 1982 |
| PubMed ID: 6289658 |
| Passage Frozen |
6 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| 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 |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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