MPLKIP

{{Short description|Protein-coding gene in the species Homo sapiens}} {{Infobox_gene}} '''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).<ref name="pmid11829489">{{cite journal |vauthors=Nakabayashi K, Fernandez BA, Teshima I, Shuman C, Proud VK, Curry CJ, Chitayat D, Grebe T, Ming J, Oshimura M, Meguro M, Mitsuya K, Deb-Rinker P, Herbrick JA, Weksberg R, Scherer SW | title = Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome | journal = Genomics | volume = 79 | issue = 2 | pages = 186–96 |date=Feb 2002 | pmid = 11829489 | doi = 10.1006/geno.2002.6695 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: C7orf11 chromosome 7 open reading frame 11| url = https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=136647}}</ref> 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== {{reflist}}

==Further reading== {{refbegin | 2}} *{{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |bibcode=2002PNAS...9916899M |doi-access=free }} *{{cite journal |vauthors=Scherer SW, Cheung J, MacDonald JR, etal |title=Human chromosome 7: DNA sequence and biology. |journal=Science |volume=300 |issue= 5620 |pages= 767–72 |year= 2003 |pmid= 12690205 | pmc=2882961 |doi= 10.1126/science.1083423 |bibcode=2003Sci...300..767S }} *{{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }} *{{cite journal |vauthors=Nakabayashi K, Amann D, Ren Y, etal |title=Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy. |journal=Am. J. Hum. Genet. |volume=76 |issue= 3 |pages= 510–6 |year= 2005 |pmid= 15645389 |doi= 10.1086/428141 | pmc=1196401 }} *{{cite journal |vauthors=Beausoleil SA, Villén J, Gerber SA, etal |title=A probability-based approach for high-throughput protein phosphorylation analysis and site localization. |journal=Nat. Biotechnol. |volume=24 |issue= 10 |pages= 1285–92 |year= 2006 |pmid= 16964243 |doi= 10.1038/nbt1240 |s2cid=14294292 }} *{{cite journal |vauthors=Botta E, Offman J, Nardo T, etal |title=Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships. |journal=Hum. Mutat. |volume=28 |issue= 1 |pages= 92–6 |year= 2007 |pmid= 16977596 |doi= 10.1002/humu.20419 |s2cid=11256506 }} *{{cite journal |vauthors=Olsen JV, Blagoev B, Gnad F, etal |title=Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. |journal=Cell |volume=127 |issue= 3 |pages= 635–48 |year= 2006 |pmid= 17081983 |doi= 10.1016/j.cell.2006.09.026 |s2cid=7827573 |doi-access=free }} *{{cite journal |vauthors=Zhang Y, Tian Y, Chen Q, etal |title=TTDN1 is a Plk1-interacting protein involved in maintenance of cell cycle integrity. |journal=Cell. Mol. Life Sci. |volume=64 |issue= 5 |pages= 632–40 |year= 2007 |pmid= 17310276 |doi= 10.1007/s00018-007-6501-8 |s2cid=7761307 |pmc=11138413 }} {{refend}}