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Search results 1 to 1 out of 1 for Mplkip

Category restricted to ProteinDomain (x)

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Category: ProteinDomain
Type Details Score
Protein Domain
Type: Family
Description: This entry represents M-phase-specific PLK1-interacting protein and related uncharacterised sequences from vertebrates.M-phase-specific PLK1-interacting protein (also known as TTD non-photosensitive 1 protein, TTDN1) may play a role in maintenance of cell cycle integrity by regulating mitosis or cytokinesis []. Its The subcellular location is regulated during cell cycle. During interphase, it is located in the nucleus. During mitosis, it is located at the centrosome and dispersed in the cytoplasm. During telophase, it is located in the midbody. It colocalizes with PLK1 at the centrosome in M phase [, ]. It is phosphorylated during mitosis in the cell cycle probably by CDK1 [, ]. Defects in MPLKIP are a cause of trichothiodystrophy non-photosensitive type 1 (TTDN1); also known as Amish brittle hair brain syndrome (ABHS), hair-brain syndrome and BIDS syndrome. TTDN1 is an autosomal recessive disorder characterised by short stature, intellectual impairment, sulfur-deficient brittle hair and decreased male fertility but not cutaneous photosensitivity [].