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产品应用
研究背景
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],disease:Defects in PCNT are the cause of microcephalic osteodysplastic primordial dwarfism type 2 (MOPD2) [MIM:210720]; 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.,function:An integral component of the pericentriolar material (PCM).,subcellular location:Centrosomal at all stages of the cell cycle. Remains associated with centrosomes following microtubule depolymerization.,subunit:Interacts with PCM1. Binds calmodulin.,tissue specificity:Expressed in all tissues tested, including placenta, liver, kidney and thymus.,
研究领域
Cell Biology; Cell Cycle; Cell Division; Spindle; Tags & Cell Markers; Subcellular Markers; Organelles; Centrosome
