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

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

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

• Centrosome
• Microcephalic osteodysplastic primordial dwarfism type II
• Gamma-tubulin

References

<references />

External links

• NCBI Gene
• UniProt

This article is a medical stub. You can help WikiMD by expanding it!
Most recent articles Ongoing trials	Wikipedia