MPLKIP M-phase specific PLK1 interacting protein
Gene ID: 136647, updated on 7-Apr-2024Gene type: protein coding
Also known as: ABHS; TTD4; ORF20; C7orf11
- See all available tests in GTR for this gene
- Go to complete Gene record for MPLKIP
- Go to Variation Viewer for MPLKIP variants
Summary
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
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Trichothiodystrophy 4, nonphotosensitive | See labs |
Genomic context
- Location:
- 7p14.1
- Sequence:
- Chromosome: 7; NC_000007.14 (40126027..40134622, complement)
- Total number of exons:
- 2
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MPLKIP variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- MPLKIP database
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.