arrested the cell at the G2/M checkpoint, leading to cell death. Moreover, microtubule functioning was also disrupted, resulting in mono- or multipolar spindles, chromosomal misalignment, premature sister chromatid separation, and aneuploidy. PCNT is highly abundant in skeletal muscle, indicating that it may be involved in muscle insulin action. PCNT is also involved in neuronal development through its interaction with DISC1 to regulate microtubule organization. Clinical significance Mutations in the PCNT gene have been linked to Down syndrome (DS); two types of primordial dwarfism, MOPDII and Seckel syndrome; intrauterine growth retardation; cardiomyopathy; early onset type 2 diabetes; chronic myeloid leukemia (CML); bipolar affective disorder; and other congenital disorders. In particular, the short stature and small brain size characteristic of MOPDII and Seckel syndrome have been attributed to centrosome dysfunction and cell growth disruption as a result of PCNT malfunction. Additionally, premature aging, cerebral involution, inflammatory and immune responses are linked to DS associated with PCNT mutations, while severe insulin resistance, diabetes, and dyslipidemia are featured in MOPDII associated with PCNT mutations. Interactions PCNT has been shown to interact with: calmodulin, separase, CEP215, CHD3/4, protein kinase A, protein kinase C, DISC1, γ-tubulin complex proteins, and PCM1. References Further reading