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CENPF
Centromere protein F is a protein that in humans is encoded by the ''CENPF'' gene. It is involved in chromosome segregation during cell division. It also has a role in the orientation of microtubules to form cellular cilia. Function CENPF is part of the nuclear matrix during the G2 phase of the cell cycle (the phase of rapid protein synthesis in preparation for mitosis). In late G2, the protein forms part of the kinetochore, a disc-shaped protein complex that allows the centromere of two sister chromatids to attach to microtubules (forming the spindle apparatus) in order for the microtubules to pull them apart in the process of dividing the cell. It remains part of the kinetochore through early anaphase (the chromosome-dividing phase). In late anaphase, CENPF localises to the spindle midzone, and in telophase (the cell-dividing phase) it localises to the intercellular bridge. It is thought to be subsequently degraded. Mutations in ''CENPF'' lead to impaired cell division durin ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Strømme Syndrome
Strømme syndrome is a very rare autosomal recessive genetic condition characterised by intestinal atresia (in which part of the intestine is missing), eye abnormalities and microcephaly. The intestinal atresia is of the "apple-peel" type, in which the remaining intestine is twisted around its main artery. The front third of the eye is typically underdeveloped, and there is usually moderate developmental delay. Less common features include an atrial septal defect, Hypertonia, increased muscle tone or skeletal abnormalities. Physical features may include short stature, large, low-set ears, a Micrognathism, small jaw, a large mouth, epicanthic folds, or fine, sparse hair. The syndrome is caused by mutations in both copies of the ''CENPF'' gene, which codes for centromere protein F. This protein is involved in cell division, in which it forms part of a disc-shaped protein complex known as a kinetochore. CENPF also has a role in orienting long, cylindrical structures called mi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
