GENETIC ENCYCLOPEDIA
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gene: TTK

id7272
symbolTTK
organismHomo sapiens
full nameTTK protein kinase
summaryThis gene encodes a dual specificity protein kinase with the ability to phosphorylate tyrosine, serine and threonine. Associated with cell proliferation, this protein is essential for chromosome alignment at the centromere during mitosis and is required for centrosome duplication. It has been found to be a critical mitotic checkpoint protein for accurate segregation of chromosomes during mitosis. Tumorigenesis may occur when this protein fails to degrade and produces excess centrosomes resulting in aberrant mitotic spindles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]
variant-disease

NM_003318.5(TTK):c.2089G>T (p.Asp697Tyr) AND Pancreatic Neoplasms

GRCh37/hg19 6q14.1(chr6:80557845-80897919)x1 AND not provided

GRCh37/hg19 6q14.1(chr6:80480799-81040515)x3 AND not provided

GRCh37/hg19 6q14.1(chr6:78216253-82753743)x3 AND not provided

GRCh38/hg38 6q14.1(chr6:78661176-80245532)x1 AND See cases

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