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The protein encoded by MPLKIP localizes to the centrosome during mitosis and to the midbody during cytokinesis. Zusätzlich bieten wir Ihnen M-Phase Specific PLK1 Interacting Protein Proteine (4) und viele weitere Produktgruppen zu diesem Protein an.
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A novel mutation in the C7orf11 gene causes nonphotosensitive trichothiodystrophy in a multiplex highly consanguineous kindred
This study extends the allelic and phenotypic spectra of MPLKIP-related trichothiodystrophy, to include a splice variant that causes cardiomyopathy as part of the trichothiodystrophy phenotype.
Given the absence of cutaneous photosensitivity in the patients with C7orf11 mutations, together with the protein's nuclear localization, C7orf11 may be involved in transcription but not DNA repair.
Reported mutations in Trichothiodystrophy do not affect TTDN1 response to ultraviolet (UV) light or the steady state level of the repair/transcription factor IIH (TFIIH (zeige GTF2H1 Antikörper)), which is central to the onset of the photosensitive form of TTD (zeige ERCC2 Antikörper).
TTDN1 is phosphorylated in mitosis, and this is required for its interaction with polo-like kinase 1 (zeige PLK1 Antikörper).
The protein encoded by this gene localizes to the centrosome during mitosis and to the midbody during cytokinesis. The protein is phosphorylated by cyclin-dependent kinase 1 during mitosis and subsequently interacts with polo-like kinase 1. The protein is thought to function in regulating mitosis and cytokinesis. Mutations in this gene result in nonphotosensitive trichothiodystrophy.
M-phase-specific PLK1-interacting protein
, Russell-Silver syndrome region
, TTD non-photosensitive 1 protein
, TTD non-photosensitive 1 protein homolog