Entrez gene ID | | 5116 |
Official gene symbol | | PCNT |
Full name | | pericentrin |
Aliases | | ,KEN,MOPD2,PCN,PCNT2,PCNTB,PCTN2,SCKL4, |
Gene summary | | 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] |
Location | | Chromosome: 21 Locus: 21q22.3 |
Gene position | | 47744036 - 47865682 Map Viewer |
Gene orientation | | plus |
Gene size | | 121647 bp |
Gene sequence |
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OMIM ID | | 605925 |
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