This gene encodes a microtubule-associated serine/threonine kinase. Mutations at this locus have been associated with autosomal dominant thrombocytopenia, also known as thrombocytopenia-2. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Feb 2010],
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Function:
Catalytic activity:ATP + a protein = ADP + a phosphoprotein.,Disease:Defects in MASTL are the cause of thrombocytopenia type 2 (THC2) [MIM:188000]. Thrombocytopenia is defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting.,Function:Putative serine/threonine kinase which may be involved in megakaryocyte differentiation.,similarity:Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family.,similarity:Contains 1 AGC-kinase C-terminal domain.,similarity:Contains 1 protein kinase domain.,
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Cellular Localization:
Cytoplasm, cytoskeleton, microtubule organizing center, centrosome . Nucleus . Cleavage furrow . During interphase is mainly nuclear, upon nuclear envelope breakdown localizes at the cytoplasm and during mitosis at the centrosomes. Upon mitotic exit moves to the cleavage furrow. .