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MPLKIP gene
URL of this page: https://medlineplus.gov/genetics/gene/mplkip/

MPLKIP gene

M-phase specific PLK1 interacting protein

Normal Function

The MPLKIP gene (formerly known as C7orf11) provides instructions for making a protein called M-phase specific PLK1 interacting protein. 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. The MPLKIP protein also interacts with a protein involved in processing and repairing RNA molecules, which are chemical cousins of DNA.

Health Conditions Related to Genetic Changes

Trichothiodystrophy

Variants (also called mutations) in the MPLKIP gene have been identified in people with trichothiodystrophy. This condition affects many parts of the body. MPLKIP gene variants cause some cases of the non-photosensitive form of trichothiodystrophy, which is not associated with extreme sensitivity to ultraviolet (UV) rays from sunlight. These gene variants account for less than 20 percent of all cases of non-photosensitive  trichothiodystrophy.

All of the known MPLKIP gene variants prevent the production of any functional MPLKIP protein. It is unclear how the loss of this protein leads to the characteristic features of trichothiodystrophy, which include slow growth, intellectual disability, and brittle hair.

More About This Health Condition

Other Names for This Gene

  • ABHS
  • C7orf11
  • chromosome 7 open reading frame 11
  • ORF20
  • TTD non-photosensitive 1 protein
  • TTDN1
  • TTDN1_HUMAN

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

  • 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. doi: 10.1002/humu.20419. Citation on PubMed
  • 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. Citation on PubMed or Free article on PubMed Central
  • 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. Citation on PubMed
  • 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. doi: 10.1016/j.neuroscience.2006.12.020. Epub 2007 Feb 1. Citation on PubMed or Free article on PubMed Central
  • 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. doi: 10.1086/428141. Epub 2005 Jan 11. Citation on PubMed or Free article on PubMed Central
  • 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. Citation on PubMed
  • 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. doi: 10.1007/s00018-007-6501-8. Citation on PubMed

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