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MPLKIP gene

Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

MPLKIP gene

The MPLKIP gene provides instructions for a protein involved in cell growth, division, and the regulation of the cell cycle.

Normal Function

The MPLKIP gene (formerly known as C7orf11) provides instructions for making the M-phase specific PLK1 interacting protein. By interacting with a protein called Plk1, the MPLKIP protein is thought to play a role in cell growth and division. It may help regulate the cell cycle, the process by which cells replicate themselves. Additionally, the protein interacts with components involved in processing and repairing RNA molecules.

Health Conditions Related to Genetic Changes

Trichothiodystrophy

Variants in the MPLKIP gene have been identified in people with trichothiodystrophy, a condition that affects many parts of the body. Specifically, these variants cause some cases of the non-photosensitive form of the condition, which is not associated with extreme sensitivity to ultraviolet (UV) rays.

Known MPLKIP variants prevent the production of any functional MPLKIP protein. While the exact mechanism remains unclear, the loss of this protein is associated with characteristic features of the condition, including:

  • Slow growth
  • Intellectual disability
  • Brittle hair

Other Names for This Gene

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

Frequently Asked Questions

This form of trichothiodystrophy primarily affects growth, cognitive development, and hair. Key features include slow growth, intellectual disability, and brittle hair. Unlike some other forms of trichothiodystrophy, this specific type is not associated with extreme sensitivity to ultraviolet (UV) rays.
Diagnosis typically involves a combination of clinical evaluation of the characteristic symptoms like brittle hair and developmental delays, along with genetic testing. Genetic testing can identify specific variants in the MPLKIP gene, confirming the diagnosis and distinguishing it from other forms of trichothiodystrophy.
Management for MPLKIP-related trichothiodystrophy is primarily supportive and aims to address the specific symptoms. This may include nutritional support for slow growth, educational and developmental therapies for intellectual disability, and specialized hair care to manage brittle hair. Regular monitoring by a multidisciplinary team of specialists is often recommended.
Currently, there is no cure for trichothiodystrophy caused by MPLKIP gene variants. Treatment focuses on managing the symptoms and improving the quality of life for affected individuals. Research continues to explore the underlying mechanisms of the disease and potential therapeutic interventions.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.