PPM1K protein phosphatase, Mg2+/Mn2+ dependent 1K
Gene ID: 152926, updated on 3-Apr-2024Gene type: protein coding
Also known as: BDP; PTMP; BCKDH; PP2Cm; MSUDMV; PP2Ckappa; UG0882E07
- See all available tests in GTR for this gene
- Go to complete Gene record for PPM1K
- Go to Variation Viewer for PPM1K variants
Summary
This gene encodes a member of the PPM family of Mn2+/Mg2+-dependent protein phosphatases. The encoded protein, essential for cell survival and development, is targeted to the mitochondria where it plays a key role in regulation of the mitochondrial permeability transition pore. [provided by RefSeq, Sep 2012]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| An atlas of genetic influences on human blood metabolites. GeneReviews: Not available | |
| Does parental expressed emotion moderate genetic effects in ADHD? An exploration using a genome wide association scan. GeneReviews: Not available | |
| Genome-wide association study identifies multiple loci influencing human serum metabolite levels. GeneReviews: Not available | |
| Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption. GeneReviews: Not available | |
| Maple syrup urine disease, mild variant | See labs |
| Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis. GeneReviews: Not available |
Genomic context
- Location:
- 4q22.1
- Sequence:
- Chromosome: 4; NC_000004.12 (88257620..88284561, complement)
- Total number of exons:
- 11
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PPM1K 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
- OMIMLink to related OMIM entry
- PPM1K @ LOVD
- 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
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