Description:
MUCOLIPIDOSIS IIIA
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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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 |
7 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
GNPTAB |
| Chromosomal Location |
12q23.3 |
| Allelic Variant 1 |
607840.0014; MUCOLIPIDOSIS IIIA |
| Identified Mutation |
LYS4GLN; In a family and a single patient with mucolipidosis IIIA (252900), Kudo et al. (Am J Hum Genet 78:451-463, 2006) found a missense mutation, lys4 to gln (K4Q), in the GNPTAB gene. |
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| Gene |
GNPTAB |
| Chromosomal Location |
12q23.3 |
| Allelic Variant 2 |
607840.0014; MUCOLIPIDOSIS IIIA |
| Identified Mutation |
LYS4GLN; In a family and a single patient with mucolipidosis IIIA (252900), Kudo et al. (Am J Hum Genet 78:451-463, 2006) found a missense mutation, lys4 to gln (K4Q), in the GNPTAB gene. |
| Remarks |
Deficient fibroblast Alpha-L-iduronidase, B-glucuronidase, B-hexosaminidase, B-galactosidase, A-fucosidase, A-galactosidase, A-mannosidase, and GLcNAc phosphotransferase activity; complementation group A; GlcNAc-Phosphotransferase activity = 12% (measured as specific activity in cell lysate and reported as percentage of activity in normal fibroblasts); donor subject is homozygous for an A>C transversion at nucleotide 174 in exon 1 of the GNPTAB gene [174A>C] resulting in a substitution of glutamine for lysine at codon 4 [Lys4Gln (K4Q)]. |
| 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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| Leroy JG, Sillence D, Wood T, Barnes J, Lebel RR, Friez MJ, Stevenson RE, Steet R, Cathey SS, A novel intermediate mucolipidosis II/IIIaß caused by GNPTAB mutation in the cytosolic N-terminal domain European journal of human genetics : EJHG22:594-601 2013 |
| PubMed ID: 24045841 |
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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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| Honey NK, Mueller OT, Little LE, Miller AL, Shows TB, Mucolipidosis III is genetically heterogeneous. Proc Natl Acad Sci U S A79:7420-4 1982 |
| PubMed ID: 6961420 |
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| Robey PG, Neufeld EF, Defective phosphorylation and processing of beta-hexosaminidase by intact cultured fibroblasts from patients with mucolipidosis III. Arch Biochem Biophys213:251-7 1982 |
| PubMed ID: 6460470 |
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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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| Potier M, Mameli L, Belisle M, Dallaire L, Melancon SB, Fluorometric assay of neuraminidase with a sodium (4-methylumbelliferyl- alpha-D-N-acetylneuraminate) substrate. Anal Biochem94:287-96 1979 |
| PubMed ID: 464297 |
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| Tietze F, Butler JD, Elevated cystine levels in cultured skin fibroblasts from patients with I-cell disease. Pediatr Res13:1350-5 1979 |
| PubMed ID: 523195 |
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| Champion MJ, Shows TB, Electrophoretic abnormalities of lysosomal enzymes in mucolipidosis fibroblast lines. Am J Hum Genet29:149-63 1977 |
| PubMed ID: 848490 |
| 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 |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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