PCNT
PCNT (Pericentrin) is a protein that in humans is encoded by the PCNT gene. It is a component of the centrosome, an organelle responsible for microtubule organization and cell cycle progression. Mutations in the PCNT gene are associated with Microcephalic osteodysplastic primordial dwarfism type II (MOPD II), a rare genetic disorder characterized by severe growth retardation and microcephaly.
Function[edit | edit source]
Pericentrin is a large coiled-coil protein of the centrosome, a cell organelle involved in cell division. It plays a crucial role in microtubule organization and the progression of the cell cycle. Pericentrin also anchors the gamma-tubulin ring complex, a multiprotein complex involved in microtubule nucleation.
Clinical significance[edit | edit source]
Mutations in the PCNT gene are associated with Microcephalic osteodysplastic primordial dwarfism type II (MOPD II), a rare genetic disorder characterized by severe growth retardation and microcephaly. Patients with MOPD II also exhibit skeletal abnormalities, including hip dislocation and short stature.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
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