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DeCS
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Descriptor English:
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KRIT1 Protein
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Descriptor Spanish:
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proteína KRIT1
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Descriptor Portuguese:
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Proteína KRIT1
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Synonyms English:
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Cerebral Cavernous Malformations 1 Protein
Krev Interaction Trapped Protein 1
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Tree Number:
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D12.776.220.600.450.458
D12.776.624.664.700.119
D12.776.631.560.465
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Definition English:
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A microtubule-associated protein consisting of four ANKYRIN REPEATS and a C-terminal FERM DOMAIN. It links the CYTOSKELETON to CELL JUNCTIONS via integrin cytoplasmic domain-associated protein-1 and plays an important role in regulating cell proliferation and integrity of endothelial cell junctions. It is also involved in REACTIVE OXYGEN SPECIES metabolism. Mutations in the KRIT1 gene are associated with type I CEREBRAL CAVERNOUS MALFORMATIONS. |
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History Note English:
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2018
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Allowable Qualifiers English:
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Record Number:
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57104
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Unique Identifier:
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D000075927
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Occurrence in VHL:
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Similar:
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DeCS
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