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proteín KRIT1

  1. Subject h.proteín KRIT1
    Subject h.KRIT1 Protein
    Entry termsproteín 1 asociovaný s cerebrálnymi kavernóznymi malformáciami
    Scope note in EnglishA 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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    (1) - CiBaMed
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