Reviewed May 2010
What is the official name of the MPLKIP gene?
The official name of this gene is “M-phase specific PLK1 interacting protein.”
MPLKIP is the gene's official symbol. The MPLKIP gene is also known by other names, listed below.
What is the normal function of the MPLKIP gene?
The MPLKIP gene (formerly known as C7orf11) provides instructions for making a protein called M-phase specific PLK1 interacting protein. The function of this protein is unclear. Based on its interaction with a protein called Plk1, the MPLKIP protein is thought to play a role in cell growth and division. In particular, it may help regulate the cell cycle, which is the cell's way of replicating itself in an organized, step-by-step fashion. Researchers speculate that the MPLKIP protein may also be involved in gene transcription, which is the first step in protein production.
How are changes in the MPLKIP gene related to health conditions?
- trichothiodystrophy - caused by mutations in the MPLKIP gene
At least eight mutations in the MPLKIP gene have been identified in people with trichothiodystrophy. These mutations cause some cases of the non-photosensitive form of the disorder, which is not associated with extreme sensitivity to ultraviolet (UV) rays from sunlight.
All of the known MPLKIP gene mutations prevent the production of any functional MPLKIP protein. It is unknown how a loss of this protein leads to the characteristic features of trichothiodystrophy, including slow growth, intellectual disability, and brittle hair.
Where is the MPLKIP gene located?
Cytogenetic Location: 7p14.1
Molecular Location on chromosome 7: base pairs 40,132,742 to 40,134,651
The MPLKIP gene is located on the short (p) arm of chromosome 7 at position 14.1.
More precisely, the MPLKIP gene is located from base pair 40,132,742 to base pair 40,134,651 on chromosome 7.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about MPLKIP?
You and your healthcare professional may find the following resources about MPLKIP helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28%28C7orf11%5BTIAB%5D%29%20OR%20%28MPLKIP%5BTIAB%5D%29%29%20OR%20%28TTDN1%5BTIAB%5D%29%20AND%20%28%28Genes%5BMH%5D%29%20OR%20%28Genetic%20Phenomena%5BMH%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/609188)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_MPLKIP.html)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=16002)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/136647)
What other names do people use for the MPLKIP gene or gene products?
- chromosome 7 open reading frame 11
- TTD non-photosensitive 1 protein
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding MPLKIP?
cell cycle ;
gene transcription ;
open reading frame ;
reading frame ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Botta E, Offman J, Nardo T, Ricotti R, Zambruno G, Sansone D, Balestri P, Raams A, Kleijer WJ, Jaspers NG, Sarasin A, Lehmann AR, Stefanini M. Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships. Hum Mutat. 2007 Jan;28(1):92-6. (http://www.ncbi.nlm.nih.gov/pubmed/16977596?dopt=Abstract)
- Faghri S, Tamura D, Kraemer KH, Digiovanna JJ. Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations. J Med Genet. 2008 Oct;45(10):609-21. doi: 10.1136/jmg.2008.058743. Epub 2008 Jun 25. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18603627?dopt=Abstract)
- Hashimoto S, Egly JM. Trichothiodystrophy view from the molecular basis of DNA repair/transcription factor TFIIH. Hum Mol Genet. 2009 Oct 15;18(R2):R224-30. doi: 10.1093/hmg/ddp390. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19808800?dopt=Abstract)
- Kraemer KH, Patronas NJ, Schiffmann R, Brooks BP, Tamura D, DiGiovanna JJ. Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship. Neuroscience. 2007 Apr 14;145(4):1388-96. Epub 2007 Feb 1. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17276014?dopt=Abstract)
- Nakabayashi K, Amann D, Ren Y, Saarialho-Kere U, Avidan N, Gentles S, MacDonald JR, Puffenberger EG, Christiano AM, Martinez-Mir A, Salas-Alanis JC, Rizzo R, Vamos E, Raams A, Les C, Seboun E, Jaspers NG, Beckmann JS, Jackson CE, Scherer SW. Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy. Am J Hum Genet. 2005 Mar;76(3):510-6. Epub 2005 Jan 11. (http://www.ncbi.nlm.nih.gov/pubmed/15645389?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/136647)
- Stefanini M, Botta E, Lanzafame M, Orioli D. Trichothiodystrophy: from basic mechanisms to clinical implications. DNA Repair (Amst). 2010 Jan 2;9(1):2-10. doi: 10.1016/j.dnarep.2009.10.005. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19931493?dopt=Abstract)
- Zhang Y, Tian Y, Chen Q, Chen D, Zhai Z, Shu HB. TTDN1 is a Plk1-interacting protein involved in maintenance of cell cycle integrity. Cell Mol Life Sci. 2007 Mar;64(5):632-40. (http://www.ncbi.nlm.nih.gov/pubmed/17310276?dopt=Abstract)
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.