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GM02425 Fibroblast

Description:

MUCOLIPIDOSIS IIIA
N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, ALPHA/BETA SUBUNITS; GNPTAB

Affected:

Yes

Sex:

Male

Age:

15 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Culture Protocols

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Lysosomal Storage Diseases
Class Disorders of Carbohydrate Metabolism
Cell Type Fibroblast
Transformant Untransformed
Race White
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Deficient fibroblast B-hexosaminidase, B-galactosidase, A-fucosidase, A-galactosidase, A-mannosidase, neuraminidase, & GLcNAc phosphotransferase activity; excessive inclusion bodies in cytoplasm; complementation group A; 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 an A>T transversion in exon 5 of the GNPTAB gene [733A>T] resulting in mRNA with a 4-bp deletion causing a frameshift at the 3'-end of the exon 5 sequence [D190fsX211] and a second allele has a 2-bp deletion in exon 19 of the GNPTAB gene [3665_3666delTC] resulting in a frameshift and truncation of the protein in the beta subunit [L1168fsX1172].

Characterizations

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Passage Frozen 6
 
Gene GNPTAB
Chromosomal Location 12q23.3
Allelic Variant 1 D190fsX211; MUCOLIPIDOSIS IIIA
Identified Mutation 733A>T
 
Gene GNPTAB
Chromosomal Location 12q23.3
Allelic Variant 2 607840.0011; MUCOLIPIDOSIS II
Identified Mutation 2-BP DEL, 3665TC; In 8 of 9 pedigrees with ML II (252500) and 5 of 7 with ML IIIA (252600), Kudo et al. (Am J Hum Genet 78:451-463, 2006) identified a frameshift mutation in the GNPTAB gene consisting of deletion of 2 nucleotides (3665_3666delTC) beginning at leu1168 and leading to premature termination at amino acid 1172 (L1168fsX1172). This mutation was the most frequent in their study and was found in both the homozygous and compound heterozygous state, in combination with severe mutations (i.e., mutations preventing the generation of active enzyme) in ML II and with mild mutations (i.e., mutations allowing the generation of active enzyme) in ML IIIA.

Phenotypic Data

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Remarks Deficient fibroblast B-hexosaminidase, B-galactosidase, A-fucosidase, A-galactosidase, A-mannosidase, neuraminidase, & GLcNAc phosphotransferase activity; excessive inclusion bodies in cytoplasm; complementation group A; 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 an A>T transversion in exon 5 of the GNPTAB gene [733A>T] resulting in mRNA with a 4-bp deletion causing a frameshift at the 3'-end of the exon 5 sequence [D190fsX211] and a second allele has a 2-bp deletion in exon 19 of the GNPTAB gene [3665_3666delTC] resulting in a frameshift and truncation of the protein in the beta subunit [L1168fsX1172].

Publications

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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
 
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
 
Little LE, Mueller OT, Honey NK, Shows TB, Miller AL, Heterogeneity of N-acetylglucosamine 1-phosphotransferase within mucolipidosis III. J Biol Chem261:733-8 1986
PubMed ID: 3001079
 
Mueller OT, Honey NK, Little LE, Miller AL, Shows TB, Mucolipidosis II and III. The genetic relationships between two disorders of lysosomal enzyme biosynthesis. J Clin Invest72:1016-23 1983
PubMed ID: 6309902
 
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
 
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
 
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
 
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
 
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

External Links

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dbSNP dbSNP ID: 15089
Gene Cards GNPTAB
NCBI Gene Gene ID:2795
NCBI GTR 252600 MUCOLIPIDOSIS III ALPHA/BETA
607840 N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, ALPHA/BETA SUBUNITS; GNPTAB
OMIM 252600 MUCOLIPIDOSIS III ALPHA/BETA
607840 N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, ALPHA/BETA SUBUNITS; GNPTAB
Omim Description ML III
  MUCOLIPIDOSIS III
  PSEUDO-HURLER POLYDYSTROPHY

Culture Protocols

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Passage Frozen 6
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
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International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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