MPLKIP
M-phase specific PLK1 interacting protein
Normal Function
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 ConditionRelated Conditions
Trichothiodystrophy
Health Conditions Related to Genetic Changes
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.