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] See more...

Aliases for PPM1K Gene

Aliases for PPM1K Gene

  • Protein Phosphatase, Mg2+/Mn2+ Dependent 1K 2 3 5
  • PP2C-Type Mitochondrial Phosphoprotein Phosphatase 2 3 4
  • PP2C Domain-Containing Protein Phosphatase 1K 3 4
  • Protein Phosphatase 1K, Mitochondrial 3 4
  • Protein Phosphatase 2C Kappa 2 3
  • EC 3.1.3.16 4 51
  • PP2C-Kappa 3 4
  • PP2Ckappa 2 3
  • PP2Cm 2 3
  • PTMP 3 4
  • BDP 2 3
  • Branched-Chain Alpha-Ketoacid Dehydrogenase Phosphatase 3
  • Branched-Chain I+/--Ketoacid Dehydrogenase Phosphatase 3
  • Branched-Chain Α-Ketoacid Dehydrogenase Phosphatase 2
  • Protein Phosphatase 1K (PP2C Domain Containing) 2
  • Protein Phosphatase, Mg2+/Mn2+ Dependent, 1K 2
  • Protein Phosphatase 2C Isoform Kappa 4
  • PP2C-Like Mitochondrial Protein 4
  • DKFZp761G058 2
  • UG0882E07 3
  • MSUDMV 3
  • PPM1K 5
  • HPTMP 2
  • PP2CM 4

External Ids for PPM1K Gene

Previous GeneCards Identifiers for PPM1K Gene

  • GC04M089541
  • GC04M089402
  • GC04M089178
  • GC04M084932

Summaries for PPM1K Gene

Entrez Gene Summary for PPM1K Gene

  • 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]

GeneCards Summary for PPM1K Gene

PPM1K (Protein Phosphatase, Mg2+/Mn2+ Dependent 1K) is a Protein Coding gene. Diseases associated with PPM1K include Maple Syrup Urine Disease, Mild Variant and Maple Syrup Urine Disease. Among its related pathways are Viral mRNA Translation and Valine, leucine and isoleucine degradation. Gene Ontology (GO) annotations related to this gene include protein serine/threonine phosphatase activity. An important paralog of this gene is PPM1L.

UniProtKB/Swiss-Prot Summary for PPM1K Gene

  • Regulates the mitochondrial permeability transition pore and is essential for cellular survival and development.

Gene Wiki entry for PPM1K Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PPM1K Gene

Genomics for PPM1K Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PPM1K Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J088279 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 +1.6 1597 6.7 CHD2 TBP ZBTB10 SP1 FEZF1 NR2C1 MNT SMAD5 ZFP64 MBD2 PPM1K-DT PPM1K lnc-ABCG2-2 HERC6 RF00026-805 RNU6-112P ABCG2
GH04J088348 Promoter 0.3 EPDnew 260.3 -64.1 -64136 0.1 PPM1K PPM1K-DT lnc-HERC6-1 ENSG00000287181 HERC6
GH04J088230 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE CraniofacialAtlas 11.1 +53.4 53395 1.8 GATA2 NFIC ABCG2 PPM1K-DT PPM1K RNU6-112P RNU6ATAC31P PIGY PYURF ENSG00000249755 RF00026-804 PKD2
GH04J088318 Enhancer 0.8 ENCODE 11.5 -35.5 -35513 3.1 SP1 BCL11A ZNF217 CUX1 IRF4 CTBP1 SMARCA5 TAF1 GATA3 TCF7L2 PPM1K PPM1K-DT RNU6-112P HSALNG0035749 piR-39098-177 HERC6
GH04J088340 Enhancer 0.8 Ensembl ENCODE 10.8 -56.7 -56686 2.1 FOXA2 PRDM6 FOXA1 ZNF362 IKZF1 TRIM28 FOSL2 SPI1 FOS ZBTB17 PPM1K-DT HERC6 PPM1K lnc-HERC6-1 ENSG00000207480
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PPM1K on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PPM1K

Top Transcription factor binding sites by QIAGEN in the PPM1K gene promoter:
  • CUTL1
  • LUN-1
  • NCX
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT3
  • TBP
  • TFIID

Genomic Locations for PPM1K Gene

Latest Assembly
chr4:88,257,617-88,284,769
(GRCh38/hg38)
Size:
27,153 bases
Orientation:
Minus strand

Previous Assembly
chr4:89,178,772-89,205,713
(GRCh37/hg19 by Entrez Gene)
Size:
26,942 bases
Orientation:
Minus strand

chr4:89,178,772-89,205,921
(GRCh37/hg19 by Ensembl)
Size:
27,150 bases
Orientation:
Minus strand

Genomic View for PPM1K Gene

Genes around PPM1K on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPM1K Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPM1K Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PPM1K Gene

Proteins for PPM1K Gene

  • Protein details for PPM1K Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N3J5-PPM1K_HUMAN
    Recommended name:
    Protein phosphatase 1K, mitochondrial
    Protein Accession:
    Q8N3J5
    Secondary Accessions:
    • B2RAZ1
    • Q05CT5
    • Q49AB5
    • Q4W5E6
    • Q56AN8
    • Q8IUZ7
    • Q8IXG7
    • Q8ND70
    • Q96NT4

    Protein attributes for PPM1K Gene

    Size:
    372 amino acids
    Molecular mass:
    40997 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for PPM1K Gene

    Alternative splice isoforms for PPM1K Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PPM1K Gene

Selected DME Specific Peptides for PPM1K Gene

Q8N3J5:
  • VNGRLAMTRSIGDLDLK
  • SRFDPDGSG
  • GDSRAILCR
  • VYDGHGG
  • PATWDNFGIWDNR
  • LLTSGTTATVALLRDG
  • DHTPERKDEKERIKK
  • FLVLTTDGINF
  • LPPSIKYGK
  • LCRKGKPMKLT
  • FGIWDNRIDEPI
  • WNSLGQP
  • VNSQEICD
  • FASSGRW
  • GKRKENEDRF

Post-translational modifications for PPM1K Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibodies for research

  • Abcam antibodies for PPM1K

Domains & Families for PPM1K Gene

Gene Families for PPM1K Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for PPM1K Gene

Suggested Antigen Peptide Sequences for PPM1K Gene

GenScript: Design optimal peptide antigens:
  • Protein phosphatase 2C isoform kappa (PPM1K_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N3J5

UniProtKB/Swiss-Prot:

PPM1K_HUMAN :
  • Belongs to the PP2C family.
Family:
  • Belongs to the PP2C family.
genes like me logo Genes that share domains with PPM1K: view

Function for PPM1K Gene

Molecular function for PPM1K Gene

UniProtKB/Swiss-Prot Function:
Regulates the mitochondrial permeability transition pore and is essential for cellular survival and development.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + O-phospho-L-seryl-[protein] = L-seryl-[protein] + phosphate; Xref=Rhea:RHEA:20629, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15377, ChEBI:CHEBI:29999, ChEBI:CHEBI:43474, ChEBI:CHEBI:83421; EC=3.1.3.16;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + O-phospho-L-threonyl-[protein] = L-threonyl-[protein] + phosphate; Xref=Rhea:RHEA:47004, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15377, ChEBI:CHEBI:30013, ChEBI:CHEBI:43474, ChEBI:CHEBI:61977; EC=3.1.3.16;.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=10.7 mM for p-nitrophenylphosphate {ECO:0000269|PubMed:17336929}; Vmax=3.6 umol/min/mg enzyme toward p-nitrophenylphosphate (at 30 degrees Celsius) {ECO:0000269|PubMed:17336929}; Vmax=4 nmol/min/mg enzyme toward branched-chain alpha-ketoacid dehydrogenase complex (at 37 degrees Celsius) {ECO:0000269|PubMed:17336929}; Note=Half maximal activity toward p-nitrophenylphosphate achieved with 3.7 mM of manganese ions.;

Enzyme Numbers (IUBMB) for PPM1K Gene

Phenotypes From GWAS Catalog for PPM1K Gene

Gene Ontology (GO) - Molecular Function for PPM1K Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004721 phosphoprotein phosphatase activity IEA --
GO:0004722 protein serine/threonine phosphatase activity IEA --
GO:0005515 protein binding IPI 25416956
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with PPM1K: view
genes like me logo Genes that share phenotypes with PPM1K: view

Animal Models for PPM1K Gene

MGI Knock Outs for PPM1K:

miRNA for PPM1K Gene

miRTarBase miRNAs that target PPM1K

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPM1K

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PPM1K Gene

Localization for PPM1K Gene

Subcellular locations from UniProtKB/Swiss-Prot for PPM1K Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PPM1K gene
Compartment Confidence
mitochondrion 5
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PPM1K Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with PPM1K: view

Pathways & Interactions for PPM1K Gene

genes like me logo Genes that share pathways with PPM1K: view

Pathways by source for PPM1K Gene

SIGNOR curated interactions for PPM1K Gene

Activates:

Gene Ontology (GO) - Biological Process for PPM1K Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006470 protein dephosphorylation IEA --
GO:0009083 branched-chain amino acid catabolic process TAS --
GO:0016311 dephosphorylation IEA --
genes like me logo Genes that share ontologies with PPM1K: view

Drugs & Compounds for PPM1K Gene

(4) Drugs for PPM1K Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved, Experimental, Investigational Pharma 0
Water Approved Pharma 0
Manganese Approved Nutra 64
Phosphate Experimental Pharma 0
genes like me logo Genes that share compounds with PPM1K: view

Transcripts for PPM1K Gene

mRNA/cDNA for PPM1K Gene

1 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPM1K

Alternative Splicing Database (ASD) splice patterns (SP) for PPM1K Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3a · 3b · 3c · 3d · 3e ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11a · 11b · 11c ^ 12a ·
SP1: - - - - - - - - - - -
SP2: - - - - - - - - - - - - - - -
SP3: - - - -
SP4: -
SP5: - - - - - - - - - - - -
SP6: - - -
SP7:
SP8: - - - - - - - - -
SP9: - - - -
SP10: - - -
SP11:
SP12: -

ExUns: 12b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for PPM1K Gene

GeneLoc Exon Structure for
PPM1K

Expression for PPM1K Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PPM1K Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PPM1K Gene

This gene is overexpressed in Heart - Left Ventricle (x6.5).

Protein differential expression in normal tissues from HIPED for PPM1K Gene

This gene is overexpressed in Heart (34.4), Pancreas (15.7), and Skin (9.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PPM1K Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PPM1K

SOURCE GeneReport for Unigene cluster for PPM1K Gene:

Hs.43744

Evidence on tissue expression from TISSUES for PPM1K Gene

  • Nervous system(4.6)
  • Pancreas(4.3)
  • Lymph node(4.2)
  • Heart(3)
  • Muscle(2.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PPM1K Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • diaphragm
  • esophagus
  • heart
  • lung
Abdomen:
  • adrenal gland
  • pancreas
  • stomach
General:
  • blood
  • peripheral nerve
  • peripheral nervous system
  • skin
  • sweat gland
  • white blood cell
genes like me logo Genes that share expression patterns with PPM1K: view

Primer products for research

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for PPM1K Gene

Orthologs for PPM1K Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PPM1K Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PPM1K 30 31
  • 99.82 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PPM1K 30 31
  • 92.47 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PPM1K 30 31
  • 91.31 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PPM1K 31
  • 90 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Ppm1k 30 17 31
  • 87.46 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ppm1k 30
  • 86.92 (n)
Chicken
(Gallus gallus)
Aves PPM1K 30 31
  • 76.97 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PPM1K 31
  • 84 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100487567 30
  • 71.51 (n)
Zebrafish
(Danio rerio)
Actinopterygii ppm1k 31
  • 67 (a)
OneToMany
PPM1K (2 of 2) 31
  • 63 (a)
OneToMany
si:ch211-149b19.3 30
  • 62.93 (n)
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10186 30
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PTC1 31
  • 31 (a)
OneToMany
PTC6 33
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT1G78200 30
  • 48.16 (n)
Species where no ortholog for PPM1K was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for PPM1K Gene

ENSEMBL:
Gene Tree for PPM1K (if available)
TreeFam:
Gene Tree for PPM1K (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PPM1K: view image

Paralogs for PPM1K Gene

genes like me logo Genes that share paralogs with PPM1K: view

Variants for PPM1K Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PPM1K Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
835720 Uncertain Significance: Maple syrup urine disease, mild variant 88,278,273(-) C/T
NM_152542.5(PPM1K):c.311G>A (p.Arg104Gln)
MISSENSE
857355 Uncertain Significance: Maple syrup urine disease, mild variant 88,265,017(-) T/C
NM_152542.5(PPM1K):c.971A>G (p.His324Arg)
MISSENSE
860430 Uncertain Significance: Maple syrup urine disease, mild variant 88,277,209(-) G/C
NM_152542.5(PPM1K):c.475C>G (p.Leu159Val)
MISSENSE
939984 Uncertain Significance: Maple syrup urine disease, mild variant 88,277,158(-) G/A
NM_152542.5(PPM1K):c.526C>T (p.Arg176Cys)
MISSENSE
949421 Uncertain Significance: Maple syrup urine disease, mild variant 88,278,196(-) C/T
NM_152542.5(PPM1K):c.388G>A (p.Gly130Ser)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PPM1K Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for PPM1K Gene

Variant ID Type Subtype PubMed ID
esv2759266 CNV gain 17122850
esv3575758 CNV gain 25503493
nsv474553 CNV novel sequence insertion 20440878

Variation tolerance for PPM1K Gene

Residual Variation Intolerance Score: 38% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.75; 46.91% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PPM1K Gene

Human Gene Mutation Database (HGMD)
PPM1K
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PPM1K

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPM1K Gene

Disorders for PPM1K Gene

MalaCards: The human disease database

(7) MalaCards diseases for PPM1K Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search PPM1K in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PPM1K_HUMAN
  • Maple syrup urine disease, mild variant (MSUDMV) [MIM:615135]: A mild form of maple syrup urine disease, a metabolic disorder due to an enzyme defect in the catabolic pathway of the branched-chain amino acids leucine, isoleucine, and valine. Accumulation of these 3 amino acids and their corresponding keto acids leads to encephalopathy and progressive neurodegeneration. Clinical features include mental and physical retardation, feeding problems, and a maple syrup odor to the urine. The keto acids of the branched-chain amino acids are present in the urine. If untreated, maple syrup urine disease can lead to seizures, coma, and death. The disease is often classified by its pattern of signs and symptoms. The most common and severe form of the disease is the classic type, which becomes apparent soon after birth. Variant forms of the disorder become apparent later in infancy or childhood and are typically milder, but they still involve developmental delay and other medical problems if not treated. MSUDMV is characterized by increased plasma levels of branched-chain amino acids (BCAA) apparent at birth. Treatment with a low-protein diet free of BCAA can result in normal psychomotor development and lack of metabolic episodes. {ECO:0000269 PubMed:23086801}. Note=The gene represented in this entry is involved in disease pathogenesis.

Additional Disease Information for PPM1K

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with PPM1K: view

No data available for Genatlas for PPM1K Gene

Publications for PPM1K Gene

  1. A novel regulatory defect in the branched-chain α-keto acid dehydrogenase complex due to a mutation in the PPM1K gene causes a mild variant phenotype of maple syrup urine disease. (PMID: 23086801) Oyarzabal A … Rodríguez-Pombo P (Human mutation 2013) 4 74
  2. Genome-wide association study identifies multiple loci influencing human serum metabolite levels. (PMID: 22286219) Kettunen J … Ripatti S (Nature genetics 2012) 3 41
  3. Structural and biochemical characterization of human mitochondrial branched-chain α-ketoacid dehydrogenase phosphatase. (PMID: 22291014) Wynn RM … Chuang DT (The Journal of biological chemistry 2012) 2 3
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  5. Screening for replication of genome-wide SNP associations in sporadic ALS. (PMID: 18987618) Cronin S … Hardiman O (European journal of human genetics : EJHG 2009) 3 41

Products for PPM1K Gene

Sources for PPM1K Gene