NA03066
DNA from Fibroblast
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 |
| Quantity |
0.050mg |
| Quantitation Method |
Please see our FAQ |
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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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Sample Source
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DNA from Fibroblast
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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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| Passage Frozen |
4 |
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| UDP-N-acetylglucosamine--lysosomal-enzyme N-acetylglucosaminephosphotransferase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 2.7.8.17 |
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| Gene |
GNPTAB |
| Chromosomal Location |
12q23.3 |
| Allelic Variant 1 |
T284fsX288; MUCOLIPIDOSIS II |
| Identified Mutation |
1012delA |
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| Gene |
GNPTAB |
| Chromosomal Location |
12q23.3 |
| Allelic Variant 2 |
C528fsX546; MUCOLIPIDOSIS II |
| Identified Mutation |
1744delC |
| Remarks |
Deficient fibroblast beta-galactosidase and N-acetylglucosaminylphosphotransferase activity; similarly affected brother; GlcNAc-Phosphotransferase activity = 1% (measured as specific activity in cell lysate and reported as percentage of activity in normal fibroblasts); donor subject is a compound heterozygote: one allele has a 1-bp deletion in exon 8 of the GNPTAB gene [1012delA] resulting in a frameshift and truncation of the protein in the alpha subunit and no beta subunit [T284fsX288] and a second allele has a 1-bp deletion in exon 12 of the GNPTAB gene [1744delC] resulting in a frameshift and truncation of the protein in the alpha subunit and no beta subunit [C528fsX546]. |
| 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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| Yan Q, Hunt PR, Frelin L, Vida TA, Pevsner J, Bean AJ, mVps24p functions in EGF receptor sorting/trafficking from the early endosome Experimental cell research304:265-73 2004 |
| PubMed ID: 15707591 |
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| Ahern-Rindell AJ, Murnane RD, Prieur DJ, Interspecific genetic complementation analysis of human and sheep fibroblasts with beta-galactosidase deficiency. Somat Cell Mol Genet15:525-33 1989 |
| PubMed ID: 2512653 |
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| Wilson PD, Firestone RA, Lenard J, The role of lysosomal enzymes in killing of mammalian cells by the lysosomotropic detergent N-dodecylimidazole. J Cell Biol104:1223-9 1987 |
| PubMed ID: 3571330 |
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| Kobayashi T, Shinnoh N, Kuroiwa Y, Incorporation and degradation of GM1 ganglioside and asialoGM1 ganglioside in cultured fibroblasts from normal individuals and patients with beta-galactosidase deficiency. Biochim Biophys Acta875:115-21 1986 |
| PubMed ID: 3079639 |
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| Kobayashi T, Shinnoh N, Goto I, Kuroiwa Y, Hydrolysis of galactosylceramide is catalyzed by two genetically distinct acid beta-galactosidases. J Biol Chem260:14982-7 1985 |
| PubMed ID: 3934152 |
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| Shows TB, Mueller OT, Honey NK, Wright CE, Miller AL, Genetic heterogeneity of I-cell disease is demonstrated by complementation of lysosomal enzyme processing mutants. Am J Med Genet12:343-53 1982 |
| PubMed ID: 6287841 |
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| Buck DW, Hanssens LK, Kennett RH, Mellman WJ, Successful cryopreservation of tissue and skin fibroblast cultures from patients with mucolipidosis II (I-cell disease). Cytogenet Cell Genet29:9-15 1981 |
| PubMed ID: 7460631 |
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| Honey NK, Miller AL, Shows TB, The mucolipidoses: identification by abnormal electrophoretic patterns of lysosomal hydrolases. Am J Med Genet9:239-53 1981 |
| PubMed ID: 7282783 |
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| Reitman ML, Varki A, Kornfeld S, Fibroblasts from patients with I-cell disease and pseudo-Hurler polydystrophy are deficient in uridine 5'-diphosphate-N- acetylglucosamine: glycoprotein N-acetylglucosaminylphosphotransferase activity. J Clin Invest67:1574-9 1981 |
| PubMed ID: 6262380 |
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| Varki AP, Reitman ML, Kornfeld S, Identification of a variant of mucolipidosis III (pseudo-Hurler polydystrophy): a catalytically active N- acetylglucosaminylphosphotransferase that fails to phosphorylate lysosomal enzymes. Proc Natl Acad Sci U S A78:7773-7 1981 |
| PubMed ID: 6461005 |
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| Virtanen I, Ekblom P, Laurila P, Nordling S, Raivio KO, Aula P, Characterization of storage material in cultured fibroblasts by specific lectin binding in lysosomal storage diseases. Pediatr Res14:1199-1203 1980 |
| PubMed ID: 7454432 |
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| Sprigz RA, Doughty RA, Spackman TJ, Murane MJ, Coates PM, Koldovsky O, Zackai EH, Neonatal presentation of I-cell disease. J Pediatr93:954-8 1978 |
| PubMed ID: 722439 |
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