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- MPLKIP abstract "M-phase-specific PLK1-interacting protein (TTD non-photosensitive 1 protein) is a protein that in humans is encoded by the MPLKIP gene (previously known as C7orf11). Patients with an inherited defect in both alleles of the gene suffer from trichothiodystrophy (TTD), a disease hallmarked by brittle hair and nails and usually by developmental difficulties as well. One patient carries a homozygous deletion of the whole gene area, which indicates that the gene is not essential for embryonic development. TTD can be diagnosed by the presence of tigertail-striped patterns in hair visible under polarised light microscopy, or biochemically by a reduced Cys content of the hairs. Only a minority of the TTD cases carry a MPLKIP defect: more frequently, the gene ERCC2 is mutated, which encodes a subunit of the protein complex TFIIH that is required for general transcription and for nucleotide excision repair of DNA damage.".
- MPLKIP entrezgene "136647".
- MPLKIP wikiPageID "15228738".
- MPLKIP wikiPageLength "4670".
- MPLKIP wikiPageOutDegree "9".
- MPLKIP wikiPageRevisionID "681560329".
- MPLKIP wikiPageWikiLink Cysteine.
- MPLKIP wikiPageWikiLink ERCC2.
- MPLKIP wikiPageWikiLink Gene.
- MPLKIP wikiPageWikiLink Human.
- MPLKIP wikiPageWikiLink Nucleotide_excision_repair.
- MPLKIP wikiPageWikiLink Protein.
- MPLKIP wikiPageWikiLink Transcription_factor_II_H.
- MPLKIP wikiPageWikiLink Trichothiodystrophy.
- MPLKIP wikiPageWikiLink Zygosity.
- MPLKIP wikiPageWikiLinkText "MPLKIP".
- MPLKIP requireManualInspection "no".
- MPLKIP updateCitations "yes".
- MPLKIP updatePage "yes".
- MPLKIP updateProteinBox "yes".
- MPLKIP updateSummary "yes".
- MPLKIP wikiPageUsesTemplate Template:Carrier_proteins.
- MPLKIP wikiPageUsesTemplate Template:Cite_journal.
- MPLKIP wikiPageUsesTemplate Template:Gene-7-stub.
- MPLKIP wikiPageUsesTemplate Template:PBB.
- MPLKIP wikiPageUsesTemplate Template:PBB_Controls.
- MPLKIP wikiPageUsesTemplate Template:PBB_Further_reading.
- MPLKIP wikiPageUsesTemplate Template:PBB_Summary.
- MPLKIP wikiPageUsesTemplate Template:Refbegin.
- MPLKIP wikiPageUsesTemplate Template:Refend.
- MPLKIP wikiPageUsesTemplate Template:Reflist.
- MPLKIP hypernym Protein.
- MPLKIP type Biomolecule.
- MPLKIP type Protein.
- MPLKIP type Redirect.
- MPLKIP type Thing.
- MPLKIP type Q206229.
- MPLKIP type Q8054.
- MPLKIP comment "M-phase-specific PLK1-interacting protein (TTD non-photosensitive 1 protein) is a protein that in humans is encoded by the MPLKIP gene (previously known as C7orf11). Patients with an inherited defect in both alleles of the gene suffer from trichothiodystrophy (TTD), a disease hallmarked by brittle hair and nails and usually by developmental difficulties as well.".
- MPLKIP label "MPLKIP".
- MPLKIP sameAs Q18050669.
- MPLKIP sameAs m.03hmmqk.
- MPLKIP sameAs Q18050669.
- MPLKIP wasDerivedFrom MPLKIP?oldid=681560329.
- MPLKIP isPrimaryTopicOf MPLKIP.