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PCNT
Pericentrin (kendrin), also known as PCNT and pericentrin-B (PCNTB), is a protein which in humans is encoded by the ''PCNT'' gene on chromosome 21. This protein localizes to the centrosome and recruits proteins to the pericentriolar matrix (PCM) to ensure proper centrosome and mitotic spindle formation, and thus, uninterrupted cell cycle progression. This gene is implicated in many diseases and disorders, including congenital disorders such as microcephalic osteodysplastic primordial dwarfism type II (MOPDII) and Seckel syndrome. Structure PCNT is a 360 kDa protein which contains a series of coiled coil domains and a highly conserved PCM targeting motif called the PACT domain near its C-terminus. The PACT domain is responsible for targeting the protein to the centrosomes and attaching it to the centriole walls during interphase. In addition, PCNT possesses five nuclear export sequences which all contribute to its nuclear export into the cytoplasm, as well as one nuclear locali ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Microcephalic Osteodysplastic Primordial Dwarfism Type II
Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is a form of primordial dwarfism associated with brain and skeletal abnormalities. It was characterized in 1982. MOPD II is listed as a rare disease by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This indicates that MOPD (or a subtype of MOPD) affects less than 200,000 people in the US population. It is associated with the protein pericentrin (PCNT). Notable persons with MOPD II * Lucia Zarate, sideshow entertainer * Bridgette Jordan, smallest living woman until her death in 2019 See also *Primordial dwarfism Primordial dwarfism (PD) is a form of dwarfism that results in a smaller body size in all stages of life beginning from before birth. More specifically, primordial dwarfism is a diagnostic category including specific types of profoundly proportion ... References External links {{Cytoskeletal defects Growth disorders ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pericentriolar Matrix
Pericentriolar material (PCM, sometimes also called pericent matrix) is a highly structured, dense mass of protein which makes up the part of the animal centrosome that surrounds the two centrioles. The PCM contains proteins responsible for microtubule nucleation and Microtubule anchoring, anchoring including γ-tubulin, pericentrin and ninein. Although the PCM appears amorphous by electron microscopy, super-resolution microscopy finds that it is highly organized. The PCM have 9-fold symmetry that mimics the symmetry of the centriole In cell biology a centriole is a cylindrical organelle composed mainly of a protein called tubulin. Centrioles are found in most eukaryotic cells, but are not present in conifers (Pinophyta), flowering plants (angiosperms) and most fungi, and a .... Some PCM proteins are organized such that one end of the protein is found near the centriole and the other end is farther away from the centriole. The PCM size is dynamic during the cell cycle. After c ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
