PCNT : pericentrin

Description

The PCNT (pericentrin) is a protein-coding gene located on chromosome 21.

The PCNT gene provides instructions for producing a protein called pericentrin, which is located within cellular structures called centrosomes. Centrosomes are vital for cell division and the assembly of microtubules, which are fibers that maintain cell shape, aid in cell division, and transport materials within cells. Pericentrin acts as an anchoring protein, securing proteins essential for centrosomal function to the centrosome. Through these interactions, pericentrin is involved in regulating the cell cycle, which is the cell's organized process of replication.

PCNT, also known as Kendrin or Pericentrin-B, is a critical component of the filamentous matrix within the centrosome. It plays a crucial role in establishing organized microtubule arrays during both mitosis and meiosis. PCNT collaborates with DISC1 to facilitate microtubule network formation. It is also an integral part of the pericentriolar material (PCM). Notably, PCNT might inhibit NEK2 kinase activity at the centrosome, thereby preventing premature centrosome splitting during interphase. These functions are supported by several studies, including those published in PubMed IDs: 10823944, 11171385, 18955030, 20599736, and 30420784.

PCNT is also known as KEN, MOPD2, PCN, PCNT2, PCNTB, PCTN2, SCKL4.

Associated Diseases

Comprehensive carrier screening

WES Whole Exome Sequencing

Clinical Exome Sequencing