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・ Mpunguzi
・ Mpuono language
・ Mpur language (Ghana)
・ MPV
・ MPL
・ MPL 75
・ MPL 85
・ MPL Communications
・ MPL-50
・ MPLA
・ MPLAB
・ MPLAB devices
・ MPlayer
・ MPlayer.com
・ MPLC
MPLKIP
・ Mpls
・ MPLS local protection
・ MPLS VPN
・ MPLS-TP
・ MPM
・ MPM (automobile)
・ MPM (psychedelic)
・ MPM Capital
・ MPM-10
・ MPMan
・ MPMC
・ MPN
・ MPO
・ Mpoeleng Mpoeleng


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MPLKIP : ウィキペディア英語版
MPLKIP

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).〔(【引用サイトリンク】 url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=136647 )〕 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.

==References==


抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)
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