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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Family Member
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2
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Relation to Proband
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father
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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 and Glucose-6-Phosphate 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. |
| Remarks |
Clinically unaffected father of GM01494; GlcNAc-Phosphotransferase activity = 78% (measured as specific activity in cell lysate and reported as percentage of activity in normal fibroblasts); donor subject has one allele which has 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)]. |
| 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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| Herd JK, Dvorak AD, Wiltse HE, Eisen JD, Kress BC, Miller AL, Mucolipidosis type III. Multiple elevated serum and urine enzyme activities. Am J Dis Child132:1181-6 1978 |
| PubMed ID: 152578 |
| Passage Frozen |
7 |
| Split Ratio |
1:3 |
| 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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