Description:
MATURITY ONSET DIABETES OF THE YOUNG, TYPE II; MODY2
GLUCOKINASE; GCK
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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Black/African American
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Gene |
GCK |
| Chromosomal Location |
7p15-p13 |
| Allelic Variant 1 |
E279Q; MATURITY ONSET DIABETES OF THE YOUNG, TYPE II |
| Identified Mutation |
GLU279GLN |
| Remarks |
NIDDM; renal failure; CHD; heterozygous for Glu279Gln (E279Q) glucokinase (GCK) gene mutation |
| Gidh-Jain M, Takeda J, Xu LZ, Lange AJ, Vionnet N, Stoffel M, Froguel P, Velho G, Sun F, Cohen D, et al, Glucokinase mutations associated with non-insulin-dependent (type 2) diabetes mellitus have decreased enzymatic activity: implications for structure/function relationships. Proc Natl Acad Sci U S A90:1932-6 1993 |
| PubMed ID: 8446612 |
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