MPLKIP Chromosome 7
M-phase specific PLK1 interacting protein
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What This Gene Does
The protein encoded by this gene localizes to the centrosome during mitosis and to the midbody during cytokinesis. The protein is phosphorylated by cyclin-dependent kinase 1 during mitosis and subsequently interacts with polo-like kinase 1. The protein is thought to function in regulating mitosis and cytokinesis. Mutations in this gene result in nonphotosensitive trichothiodystrophy. [provided by RefSeq, Nov 2009]
Associated Conditions (4)
Trichothiodystrophy 4
nonphotosensitive
Trichothiodystrophy 1
photosensitive
Key Variants
RS2484134094
Conflicting classifications of pathogenicity
Trichothiodystrophy 4, nonphotosensitive, Trichothiodystrophy 4
Health Risk
RS2484133876
Likely pathogenic
Trichothiodystrophy 4, nonphotosensitive, Trichothiodystrophy 4
Health Risk
RS1191124879
Pathogenic
Health Risk
RS2150561563
Pathogenic
Trichothiodystrophy 4, nonphotosensitive, Trichothiodystrophy 4
Health Risk
RS2484141220
Pathogenic
Health Risk
RS2484142427
Pathogenic
Health Risk
RS587776531
Pathogenic
Trichothiodystrophy 4, nonphotosensitive, Trichothiodystrophy 4
Health Risk
RS587776532
Pathogenic
Trichothiodystrophy 4, nonphotosensitive, Trichothiodystrophy 4
Health Risk
RS753172610
Pathogenic
Health Risk
RS768342562
Pathogenic
Trichothiodystrophy 1, photosensitive, Trichothiodystrophy 1
Health Risk
RS779644594
Pathogenic
Health Risk
RS869312900
Pathogenic
Trichothiodystrophy 4, nonphotosensitive, Trichothiodystrophy 4
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2484134094 | Health Risk | Conflicting classifications of pathogenicity | Trichothiodystrophy 4, nonphotosensitive, Trichothiodystrophy 4 |
| RS2484133876 | Health Risk | Likely pathogenic | Trichothiodystrophy 4, nonphotosensitive, Trichothiodystrophy 4 |
| RS1191124879 | Health Risk | Pathogenic | — |
| RS2150561563 | Health Risk | Pathogenic | Trichothiodystrophy 4, nonphotosensitive, Trichothiodystrophy 4 |
| RS2484141220 | Health Risk | Pathogenic | — |
| RS2484142427 | Health Risk | Pathogenic | — |
| RS587776531 | Health Risk | Pathogenic | Trichothiodystrophy 4, nonphotosensitive, Trichothiodystrophy 4 |
| RS587776532 | Health Risk | Pathogenic | Trichothiodystrophy 4, nonphotosensitive, Trichothiodystrophy 4 |
| RS753172610 | Health Risk | Pathogenic | — |
| RS768342562 | Health Risk | Pathogenic | Trichothiodystrophy 1, photosensitive, Trichothiodystrophy 1 |
| RS779644594 | Health Risk | Pathogenic | — |
| RS869312900 | Health Risk | Pathogenic | Trichothiodystrophy 4, nonphotosensitive, Trichothiodystrophy 4 |
| RS878854339 | Health Risk | Pathogenic | Trichothiodystrophy 4, nonphotosensitive, Trichothiodystrophy 4 |
| RS886041703 | Health Risk | Pathogenic | — |
| RS137853117 | Health Risk | Pathogenic/Likely pathogenic | Trichothiodystrophy 4, nonphotosensitive, Trichothiodystrophy 4 |