NA00334
DNA from Fibroblast
Description:
GALACTOKINASE DEFICIENCY
GALACTOKINASE 1; GALK1
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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 |
| Quantity |
50 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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Family Member
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1
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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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| PDL at Freeze |
5.79 |
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| galactokinase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 2.7.1.6 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
GALK1 |
| Chromosomal Location |
17q25.1 |
| Allelic Variant 1 |
604313.0001; GALACTOKINASE DEFICIENCY WITH CATARACTS |
| Identified Mutation |
VAL32MET; In family GB in which the proband had galactokinase deficiency and congenital cataracts, Stambolian et al. (1995) found a single base substitution of A for G at position 94, which resulted in a val32-to-met substitution.
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| |
| Gene |
GALK1 |
| Chromosomal Location |
17q25.1 |
| Allelic Variant 2 |
604313.0001; GALACTOKINASE DEFICIENCY WITH CATARACTS |
| Identified Mutation |
VAL32MET; In family GB in which the proband had galactokinase deficiency and congenital cataracts, Stambolian et al. (1995) found a single base substitution of A for G at position 94, which resulted in a val32-to-met substitution.
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| Remarks |
Cataracts; deficient galactokinase activity; passage 10 at CCR; slow growing culture |
| Stambolian D, Ai Y, Sidjanin D, Nesburn K, Sathe G, Rosenberg M, Bergsma DJ, Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts. Nat Genet10:307-12 1995 |
| PubMed ID: 7670469 |
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| Stephenson C, Brivet M, Gautier M, Deschatrette J, Gitzelmann R, Karran P, Normal expression of thymidine kinase and O6-methylguanine-DNA methyltransferase in cultured fibroblasts from individuals with hereditary galactokinase deficiency. Biochem Genet29:135-44 1991 |
| PubMed ID: 1859354 |
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| Schoen RC, Cox SH, Wagner RP, Thymidine-kinase activity of cultured cells from individuals with inherited galactokinase deficiency. Am J Hum Genet36:815-22 1984 |
| PubMed ID: 6475956 |
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| Tedesco TA, Miller KL, Galactosemia: alterations in sulfate metabolism secondary to galactose- 1-phosphate uridyltransferase deficiency. Science205:1395-7 1979 |
| PubMed ID: 472754 |
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| Friedman TB, Yarkin RJ, Merril CR, Galactose and glucose metabolism in galactokinase deficient, galactose- 1-P-uridyl transferase deficient and normal human fibroblasts. J Cell Physiol85:569-78 1975 |
| PubMed ID: 167035 |
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