MPLKIP gene

M-phase specific PLK1 interacting protein

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.

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.

Cytogenetic Location: 7p14.1, which is the short (p) arm of chromosome 7 at position 14.1

Molecular Location: base pairs 40,132,743 to 40,134,652 on chromosome 7 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 7p14.1, which is the short (p) arm of chromosome 7 at position 14.1
  • ABHS
  • C7orf11
  • chromosome 7 open reading frame 11
  • ORF20
  • TTD non-photosensitive 1 protein
  • TTDN1
  • TTDN1_HUMAN