The ank gene story
| Autor: | Lawrence M. Ryan |
|---|---|
| Rok vydání: | 2000 |
| Předmět: |
pathologic mineralization
Nonsense mutation Genes Recessive Gene product Mice medicine Extracellular Animals Humans Phosphate Transport Proteins Gene chemistry.chemical_classification Chemistry Arthritis Membrane Proteins basic calcium phosphate medicine.disease Mice Mutant Strains ank/ank mice calcium pyrophosphate dihydrate Enzyme Membrane protein Biochemistry apatite inorganic pyrophosphate Commentary Alkaline phosphatase Calcification |
| Zdroj: | Arthritis Research |
| ISSN: | 1465-9905 |
| Popis: | The underlying molecular defect resulting in the abnormal calcification observed in ank/ank mice has been identified. The responsible nonsense mutation affects the protein product of ank, resulting in diminished production of extracellular inorganic pyrophosphate, an important inhibitor of nucleation and of the growth of apatite crystals. The ank gene product is one of several cell membrane proteins, including ectonucleoside triphosphate pyrophosphohydrolase enzymes and alkaline phosphatase, that regulate extracellular inorganic pyrophosphate levels and thereby regulate mineralization. |
| Databáze: | OpenAIRE |
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