NA03392
DNA from Fibroblast
Description:
MUCOLIPIDOSIS III, COMPLEMENTATION GROUP C
N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, GAMMA SUBUNIT; GNPTG
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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 |
10 µg |
| 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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Ethnicity
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IRANIAN
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Family Member
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2
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Relation to Proband
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sister
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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 Isoenzyme Electrophoresis |
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| Gene |
GNPTG |
| Chromosomal Location |
16p |
| Allelic Variant 1 |
; MUCOLIPIDOSIS III |
| Identified Mutation |
445delG |
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| Gene |
GNPTG |
| Chromosomal Location |
16p |
| Allelic Variant 2 |
; MUCOLIPIDOSIS III |
| Identified Mutation |
445delG |
| Remarks |
Iranian; deficient alpha-L-iduronidase, arylsulfatase A, alpha-mannosidase, hexosaminidase A and B, and beta-galactosidase activity; possible variant; GlcNAc-Phosphotransferase activity = 122% (measured as specific activity in cell lysate and reported as percentage of activity in normal fibroblasts); donor subject was found not to have mutations in the GNPTAB gene via sequencing; donor subject is homozygous for a 1-bp deletion at nucleotide 445 of the GNPTG gene [445delG]
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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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| 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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