MPLKIP
MPLKIP
The MPLKIP gene, also known as the "M-phase specific PLK1 interacting protein," is a human gene that encodes a protein involved in cell cycle regulation, particularly during the M phase of cell division. This gene plays a crucial role in ensuring proper mitotic progression and genomic stability.
Function[edit | edit source]
The MPLKIP protein interacts with Polo-like kinase 1 (PLK1), a serine/threonine-protein kinase that is essential for various stages of mitosis. MPLKIP is believed to be involved in the regulation of PLK1 activity, thereby influencing processes such as spindle formation, chromosome segregation, and cytokinesis. The precise mechanisms by which MPLKIP modulates PLK1 function are still under investigation, but it is thought to act as a scaffold or regulatory protein that ensures PLK1 is localized and activated at the correct time and place during cell division.
Clinical Significance[edit | edit source]
Mutations in the MPLKIP gene have been associated with a rare genetic disorder known as Trichothiodystrophy. This condition is characterized by brittle hair, intellectual disability, and other developmental abnormalities. The link between MPLKIP mutations and trichothiodystrophy highlights the importance of proper cell cycle regulation in human development and health.
Research and Studies[edit | edit source]
Recent studies have focused on elucidating the role of MPLKIP in cancer biology. Given its involvement in cell cycle regulation, dysregulation of MPLKIP expression or function may contribute to oncogenesis. Researchers are investigating whether MPLKIP could serve as a potential biomarker for certain types of cancer or as a target for therapeutic intervention.
Gene Location[edit | edit source]
The MPLKIP gene is located on chromosome 7 at the cytogenetic band 7p22.3. It spans approximately 5 kilobases and consists of several exons that encode the MPLKIP protein.
Protein Structure[edit | edit source]
The MPLKIP protein is composed of 179 amino acids and has a molecular weight of approximately 20 kDa. It contains several domains that are important for its interaction with PLK1 and other proteins involved in the mitotic machinery.
Also see[edit | edit source]
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Contributors: Prab R. Tumpati, MD