Description:
GALACTOSEMIA
GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; GALT
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable 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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cousin
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Confirmation
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Molecular characterization after cell line submission to CCR
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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 |
3 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| UDP-glucose--hexose-1-phosphate uridylyltransferase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 2.7.7.12 |
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| Gene |
GALT |
| Chromosomal Location |
9p13 |
| Allelic Variant 1 |
606999.0006; GALACTOSEMIA |
| Identified Mutation |
GLN188ARG; Reichardt et al. [Am J Hum Genet 49: 860 (1991)] demonstrated a transition at nucleotide 591 that substituted arginine for glutamine-188. The mutated glutamine is not only highly conserved in evolution, but is also 2 amino acid residues downstream from the active site histidine-proline-histidine triad. Lymphoblasts from subjects homozygous for the GLN188ARG mutation show essentially no detectable GALT activity [Fridovich-Keil and Jinks-Robertson. Proc Nat Acad Sci USA 90: 398 (1993)]. |
| Remarks |
2nd generation with transferase deficiency galactosemia; GALT gene mutation is [Gln188Arg (Q188R)]/?; 2nd allele is negative for R333W and N314D |
| Janes V, Grabany S, Delbrouck J, Vincent SP, Gottschalk J, Elling L, Hanisch FG, Fluorinated Galactoses Inhibit Galactose-1-Phosphate Uridyltransferase and Metabolically Induce Galactosemia-like Phenotypes in HEK-293 Cells Cells9: 2020 |
| PubMed ID: 32138379 |
| Passage Frozen |
3 |
| 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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