Aliases for PCNT Gene
External Ids for PCNT Gene
Previous HGNC Symbols for PCNT Gene
Previous GeneCards Identifiers for PCNT Gene
The protein encoded by this gene binds to calmodulin and is expressed in the centrosome. It is an integral component of the pericentriolar material (PCM). The protein contains a series of coiled-coil domains and a highly conserved PCM targeting motif called the PACT domain near its C-terminus. The protein interacts with the microtubule nucleation component gamma-tubulin and is likely important to normal functioning of the centrosomes, cytoskeleton, and cell-cycle progression. Mutations in this gene cause Seckel syndrome-4 and microcephalic osteodysplastic primordial dwarfism type II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
GeneCards Summary for PCNT Gene
PCNT (Pericentrin) is a Protein Coding gene. Diseases associated with PCNT include Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii and Seckel Syndrome. Among its related pathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. GO annotations related to this gene include calmodulin binding. An important paralog of this gene is AKAP9.
UniProtKB/Swiss-Prot for PCNT Gene
Integral component of the filamentous matrix of the centrosome involved in the initial establishment of organized microtubule arrays in both mitosis and meiosis. Plays a role, together with DISC1, in the microtubule network formation. Is an integral component of the pericentriolar material (PCM). May play an important role in preventing premature centrosome splitting during interphase by inhibiting NEK2 kinase activity at the centrosome.