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MPLKIP

MPLKIP

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.

Read more about gene names and symbols on the About page.

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.

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? 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.

What other names do people use for the MPLKIP gene or gene products?

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

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding MPLKIP?

cell ; cell cycle ; chromosome ; disability ; gene ; gene transcription ; open reading frame ; protein ; reading frame ; sensitivity ; transcription

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (8 links)

 

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 healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Reviewed: May 2010
Published: July 21, 2014