Pericentrin 1 (PCNT) Antibody – Sheep Polyclonal

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. [provided by RefSeq, Jul 2008]

PCNT: 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. Defects in PCNT are the cause of microcephalic osteodysplastic primordial dwarfism type 2 (MOPD2); also known as osteodysplastic primordial dwarfism type 2. Adults with this rare inherited condition have an average height of 100 centimeters and a brain size comparable to that of a 3-month-old baby, but are of near-normal intelligence. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Cell cycle regulation

Chromosomal Location of Human Ortholog: 21q22.3

Cellular Component: centriole; microtubule; centrosome; pericentriolar material; intercellular bridge; membrane; cytoplasm; cytosol

Molecular Function: calmodulin binding; protein binding

Biological Process: in utero embryonic development; multicellular organism growth; organelle organization and biogenesis; olfactory bulb development; neuron migration; microtubule cytoskeleton organization and biogenesis; spindle organization and biogenesis; limb morphogenesis; cerebellar cortex morphogenesis; brain morphogenesis; cilium biogenesis; mitotic cell cycle; G2/M transition of mitotic cell cycle; negative regulation of apoptosis

Disease: Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii