This gene encodes a mitochondrion outer membrane protein that catalyzes the hydroxylation of L-tryptophan metabolite, L-kynurenine, to form L-3-hydroxykynurenine. Studies in yeast identified this gene as a therapeutic target for Huntington disease. [provided by RefSeq, Oct 2011] See more...

Aliases for KMO Gene

Aliases for KMO Gene

  • Kynurenine 3-Monooxygenase 2 3 4 5
  • Kynurenine 3-Hydroxylase 2 3 4
  • EC 1.14.13.9 4 50
  • Kynurenine 3-Monooxygenase (Kynurenine 3-Hydroxylase) 2
  • DJ317G22.1 3
  • KMO 5

External Ids for KMO Gene

Previous GeneCards Identifiers for KMO Gene

  • GC01P239781
  • GC01P237149
  • GC01P237992
  • GC01P238736
  • GC01P238020
  • GC01P241695
  • GC01P212153

Summaries for KMO Gene

Entrez Gene Summary for KMO Gene

  • This gene encodes a mitochondrion outer membrane protein that catalyzes the hydroxylation of L-tryptophan metabolite, L-kynurenine, to form L-3-hydroxykynurenine. Studies in yeast identified this gene as a therapeutic target for Huntington disease. [provided by RefSeq, Oct 2011]

GeneCards Summary for KMO Gene

KMO (Kynurenine 3-Monooxygenase) is a Protein Coding gene. Diseases associated with KMO include Transient Cerebral Ischemia and Streptococcal Meningitis. Among its related pathways are superpathway of tryptophan utilization and Metabolism. Gene Ontology (GO) annotations related to this gene include flavin adenine dinucleotide binding and kynurenine 3-monooxygenase activity. An important paralog of this gene is COQ6.

UniProtKB/Swiss-Prot Summary for KMO Gene

  • Catalyzes the hydroxylation of L-kynurenine (L-Kyn) to form 3-hydroxy-L-kynurenine (L-3OHKyn) (PubMed:29429898, PubMed:23575632, PubMed:26752518, PubMed:28604669, PubMed:29208702). Required for synthesis of quinolinic acid, a neurotoxic NMDA receptor antagonist and potential endogenous inhibitor of NMDA receptor signaling in axonal targeting, synaptogenesis and apoptosis during brain development. Quinolinic acid may also affect NMDA receptor signaling in pancreatic beta cells, osteoblasts, myocardial cells, and the gastrointestinal tract (Probable).

Tocris Summary for KMO Gene

  • Hydroxylases are enzymes that catalyze the addition of hydroxyl groups to substrates during oxidation reactions. This diverse group of enzymes includes tryptophan hydroxylase (E.C. 1.14.16.4), steroid 11-beta hydroxylase (E.C. 1.14.15.4), and LTB4 omega-hydroxylase (E.C. 1.14.13.30).

Gene Wiki entry for KMO Gene

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

Genomics for KMO Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KMO 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
GH01J241530 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 288.8 +2.1 2126 6.3 BCLAF1 ZNF654 ZNF592 POLR2A YY1 BCL11A CTCF CEBPB REST TRIM22 KMO lnc-FH-8 CHML HSALNG0011950
GH01J241550 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 46.1 +20.0 20025 2.2 BCLAF1 SP1 NCOR1 IKZF1 POLR2A BCL11A HES1 TBP MNT ARNT KMO HSALNG0011950 lnc-FH-8 CHML
GH01J241529 Enhancer 0.2 FANTOM5 252.1 -1.9 -1947 0 KMO FH
GH01J241603 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 27.6 +76.3 76318 16.8 ZNF654 MYC NCOR1 IKZF1 JUND ATF3 NFIC YY1 NONO CTCF KMO CHML WDR64 OPN3 HSALNG0011954 lnc-CHML-1
GH01J241542 Enhancer 1.1 FANTOM5 Ensembl ENCODE dbSUPER 28.8 +10.7 10718 4 JUND ZNF217 ELF1 CTBP1 SMARCE1 FOXA1 DPF2 CREB1 KMO CHML lnc-FH-8 HSALNG0011950
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Top Transcription factor binding sites by QIAGEN in the KMO gene promoter:
  • FOXD3
  • FOXI1
  • FOXO1
  • FOXO4
  • HFH-3
  • NF-kappaB1
  • NRSF form 1
  • NRSF form 2
  • p53

Genomic Locations for KMO Gene

Latest Assembly
chr1:241,531,883-241,595,642
(GRCh38/hg38)
Size:
63,760 bases
Orientation:
Plus strand

Previous Assembly
chr1:241,695,678-241,758,944
(GRCh37/hg19 by Entrez Gene)
Size:
63,267 bases
Orientation:
Plus strand

chr1:241,695,434-241,758,944
(GRCh37/hg19 by Ensembl)
Size:
63,511 bases
Orientation:
Plus strand

Genomic View for KMO Gene

Genes around KMO on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for KMO Gene

Proteins for KMO Gene

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

    Protein Symbol:
    O15229-KMO_HUMAN
    Recommended name:
    Kynurenine 3-monooxygenase
    Protein Accession:
    O15229
    Secondary Accessions:
    • A2A2U8
    • A2A2U9
    • A2A2V0
    • Q5SY07
    • Q5SY08
    • Q5SY09

    Protein attributes for KMO Gene

    Size:
    486 amino acids
    Molecular mass:
    55810 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Increased in neuroinflammatory conditions. Inhibitors are investigated as potential neuroprotective drugs since they lead to an increased level of kynurenic acid, a neuroprotective NMDA receptor agonist.
    • [Isoform 3]: Gene model based on mouse cDNA data.

    Three dimensional structures from OCA and Proteopedia for KMO Gene

    Alternative splice isoforms for KMO Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KMO Gene

Selected DME Specific Peptides for KMO Gene

O15229:
  • EMRAHVNS
  • GQGMNAG
  • SFTCTLF
  • MMIALPN
  • PMRARMIH
  • GFEDCLVF
  • GRSINLAL

Post-translational modifications for KMO Gene

  • Glycosylation at Asn465
  • Modification sites at PhosphoSitePlus

Domains & Families for KMO Gene

Gene Families for KMO Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted membrane proteins

Protein Domains for KMO Gene

Suggested Antigen Peptide Sequences for KMO Gene

GenScript: Design optimal peptide antigens:
  • Kynurenine 3-monooxygenase (Kynurenine 3-hydroxylase) (A2A2U7_HUMAN)
  • Kynurenine 3-hydroxylase (KMO_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O15229

UniProtKB/Swiss-Prot:

KMO_HUMAN :
  • Transmembrane domains are required for enzymatic activity.
  • Belongs to the aromatic-ring hydroxylase family. KMO subfamily.
Domain:
  • Transmembrane domains are required for enzymatic activity.
Family:
  • Belongs to the aromatic-ring hydroxylase family. KMO subfamily.
genes like me logo Genes that share domains with KMO: view

Function for KMO Gene

Molecular function for KMO Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the hydroxylation of L-kynurenine (L-Kyn) to form 3-hydroxy-L-kynurenine (L-3OHKyn) (PubMed:29429898, PubMed:23575632, PubMed:26752518, PubMed:28604669, PubMed:29208702). Required for synthesis of quinolinic acid, a neurotoxic NMDA receptor antagonist and potential endogenous inhibitor of NMDA receptor signaling in axonal targeting, synaptogenesis and apoptosis during brain development. Quinolinic acid may also affect NMDA receptor signaling in pancreatic beta cells, osteoblasts, myocardial cells, and the gastrointestinal tract (Probable).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H(+) + L-kynurenine + NADPH + O2 = 3-hydroxy-L-kynurenine + H2O + NADP(+); Xref=Rhea:RHEA:20545, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:57783, ChEBI:CHEBI:57959, ChEBI:CHEBI:58125, ChEBI:CHEBI:58349; EC=1.14.13.9; Evidence={ECO:0000255|HAMAP-Rule:MF_03018, ECO:0000269|PubMed:10672018, ECO:0000269|PubMed:29429898, ECO:0000269|PubMed:9237672};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=24.1 uM for L-kynurenine {ECO:0000269|PubMed:10672018, ECO:0000269|PubMed:23575632, ECO:0000269|PubMed:9237672}; KM=2 uM for L-kynurenine {ECO:0000269|PubMed:26752518}; KM=78 uM for L-kynurenine {ECO:0000269|PubMed:26752518}; Vmax=8.5 umol/min/mg enzyme {ECO:0000269|PubMed:10672018, ECO:0000269|PubMed:9237672}; Note=Kcat is 0.24 sec(-1) for L-kynurenine. {ECO:0000269|PubMed:28604669}; pH dependence: Optimum pH is 7.5. {ECO:0000269|PubMed:10672018, ECO:0000269|PubMed:9237672};
GENATLAS Biochemistry:
kynurenine 3-monooxygenase,55.8kDa,NADPH flavin monooxygenase,expressed in liver,placenta,kidney

Enzyme Numbers (IUBMB) for KMO Gene

Phenotypes From GWAS Catalog for KMO Gene

Gene Ontology (GO) - Molecular Function for KMO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004497 monooxygenase activity IEA --
GO:0004502 kynurenine 3-monooxygenase activity TAS --
GO:0005515 protein binding IPI --
GO:0016174 NAD(P)H oxidase activity IBA,IDA 10672018
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with KMO: view
genes like me logo Genes that share phenotypes with KMO: view

Animal Models for KMO Gene

MGI Knock Outs for KMO:
  • Kmo Kmo<tm1.2Pjmi>
  • Kmo Kmo<tm1a(KOMP)Wtsi>

Inhibitory RNAs for research

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

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

Localization for KMO Gene

Subcellular locations from UniProtKB/Swiss-Prot for KMO Gene

Mitochondrion outer membrane. Multi-pass membrane protein.

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 KMO gene
Compartment Confidence
mitochondrion 4
cytosol 4
extracellular 3
plasma membrane 2
cytoskeleton 2
peroxisome 1
nucleus 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for KMO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IEA --
GO:0005739 mitochondrion IEA --
GO:0005741 mitochondrial outer membrane IBA,ISS 10672018
GO:0005829 cytosol TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with KMO: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KMO Gene

Pathways & Interactions for KMO Gene

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

UniProtKB/Swiss-Prot O15229-KMO_HUMAN

  • Pathway: Cofactor biosynthesis; NAD(+) biosynthesis; quinolinate from L-kynurenine: step 1/3.

Gene Ontology (GO) - Biological Process for KMO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006569 tryptophan catabolic process TAS --
GO:0007568 aging IEA --
GO:0009435 NAD biosynthetic process IEA --
GO:0009651 response to salt stress IDA 10672018
GO:0014049 positive regulation of glutamate secretion IEA --
genes like me logo Genes that share ontologies with KMO: view

No data available for SIGNOR curated interactions for KMO Gene

Drugs & Compounds for KMO Gene

(19) Drugs for KMO Gene - From: ApexBio, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Metyrapone Approved, Investigational Pharma 11-beta hydroxylase inhibitor 15
Oxygen Approved, Vet_approved Pharma 0
FAD Approved Pharma 0
Water Approved Pharma 0
L-Kynurenine Experimental Pharma Tryptophan catabolite; endogenous aryl hydrocarbon receptor ligand 0

(8) Additional Compounds for KMO Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Hydrogen Ion
  • H+
  • H(+)
  • Hydron
  • Hydrogen cation
  • Proton
Hydroxykynurenine
  • 2-Amino-4-(2-amino-3-hydroxyphenyl)-4-oxobutanoic acid
  • 3-(3-Hydroxyanthraniloyl)alanine
  • 3-Hydroxy-DL-kynurenine
  • 2-Amino-4-(2-amino-3-hydroxyphenyl)-4-oxobutanoate
  • 3-(3-Hydroxyanthraniloyl)-alanine
484-78-6
L-3-Hydroxykynurenine
  • (2S)-2-Amino-4-(2-amino-3-hydroxyphenyl)-4-oxobutanoic acid
  • 3-(3-Hydroxyanthraniloyl)-L-alanine
  • (2S)-2-Amino-4-(2-amino-3-hydroxyphenyl)-4-oxobutanoate
  • 3-(2-Amino-3-hydroxybenzoyl)-L-alanine
  • 3-Hydroxy-L-kynurenine
606-14-4

(4) Tocris Compounds for KMO Gene

Compound Action Cas Number
17-ODYA LTB omega-hydroxylase inhibitor 34450-18-5
DMOG Prolyl hydroxylase inhibitor 89464-63-1
Metyrapone 11-beta hydroxylase inhibitor 54-36-4
p-Chlorophenylalanine Tryptophan hydroxylase inhibitor 7424-00-2

(4) ApexBio Compounds for KMO Gene

Compound Action Cas Number
17-ODYA LTB4 ω-hydroxylase inhibitor 34450-18-5
GSK180 inhibitor of kynurenine-3-monooxygenase (KMO)
Metyrapone 54-36-4
Ro 61-8048 199666-03-0
genes like me logo Genes that share compounds with KMO: view

Drug products for research

Transcripts for KMO Gene

mRNA/cDNA for KMO Gene

1 REFSEQ mRNAs :
10 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 KMO

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

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15
SP1: - - - - -
SP2: - - - -
SP3: - - -
SP4: -
SP5: - - - - - -
SP6: -
SP7: - -

Relevant External Links for KMO Gene

GeneLoc Exon Structure for
KMO

Expression for KMO Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Liver (x24.2) and Kidney - Cortex (x6.0).

Protein differential expression in normal tissues from HIPED for KMO Gene

This gene is overexpressed in Gallbladder (42.4), Liver (7.3), and Kidney (6.3).

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



Protein tissue co-expression partners for KMO Gene

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

SOURCE GeneReport for Unigene cluster for KMO Gene:

Hs.744065

mRNA Expression by UniProt/SwissProt for KMO Gene:

O15229-KMO_HUMAN
Tissue specificity: Highest levels in placenta and liver. Detectable in kidney.

Evidence on tissue expression from TISSUES for KMO Gene

  • Liver(2.5)
  • Blood(2.3)
  • Nervous system(2.3)
  • Kidney(2.2)
  • Spleen(2)
genes like me logo Genes that share expression patterns with KMO: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for KMO Gene

Orthologs for KMO Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for KMO Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia KMO 29 30
  • 99.18 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia KMO 29 30
  • 88.2 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia KMO 29 30
  • 87.63 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Kmo 29
  • 82.68 (n)
Mouse
(Mus musculus)
Mammalia Kmo 29 16 30
  • 81.54 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia KMO 30
  • 78 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia KMO 30
  • 72 (a)
OneToOne
Chicken
(Gallus gallus)
Aves KMO 29 30
  • 69.16 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia KMO 30
  • 67 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia kmo 29
  • 68.41 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.14429 29
Zebrafish
(Danio rerio)
Actinopterygii kmo 29 30
  • 66.52 (n)
OneToMany
KMO (2 of 2) 30
  • 65 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta KMO_ANOGA 29
  • 53.89 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta cn 29 30 31
  • 49.65 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea R07B7.5 29 31
  • 53.04 (n)
kmo-1 30
  • 44 (a)
OneToMany
R07B7.4 30 31
  • 35 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BNA4 29 30 32
  • 50.28 (n)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AGL276W 29
  • 47.22 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.1968 30
  • 53 (a)
OneToOne
Bread mold
(Neurospora crassa)
Ascomycetes NCU06924 29
  • 46.84 (n)
Species where no ortholog for KMO was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • 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)
  • 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for KMO Gene

ENSEMBL:
Gene Tree for KMO (if available)
TreeFam:
Gene Tree for KMO (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KMO: view image
Alliance of Genome Resources:
Additional Orthologs for KMO

Paralogs for KMO Gene

Paralogs for KMO Gene

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

Variants for KMO Gene

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

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs142152979 Benign: not provided 241,566,589(+) G/A
NM_003679.5(KMO):c.786G>A (p.Pro262=)
SYNONYMOUS
rs187112513 Benign: not provided 241,568,656(+) T/A
NM_003679.5(KMO):c.957+9T>A
INTRON
rs531693759 Likely Benign: not provided 241,566,588(+) C/T
NM_003679.5(KMO):c.785C>T (p.Pro262Leu)
MISSENSE
rs568398307 Benign: not provided 241,562,315(+) C/T
NM_003679.5(KMO):c.598C>T (p.Pro200Ser)
MISSENSE
rs1053230 -- p.Arg452Cys

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

Variant ID Type Subtype PubMed ID
dgv159e212 CNV loss 25503493
esv2670654 CNV deletion 23128226
esv2726207 CNV deletion 23290073
esv2726218 CNV deletion 23290073
esv3549543 CNV deletion 23714750
esv3578512 CNV loss 25503493
esv3589344 CNV loss 21293372
esv8534 CNV gain 19470904
nsv1002214 CNV gain 25217958
nsv525983 CNV loss 19592680
nsv549460 CNV gain 21841781

Variation tolerance for KMO Gene

Residual Variation Intolerance Score: 55.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.23; 62.23% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KMO Gene

Human Gene Mutation Database (HGMD)
KMO
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KMO
Leiden Open Variation Database (LOVD)
KMO

SNP Genotyping and Copy Number Assays for research

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

Disorders for KMO Gene

MalaCards: The human disease database

(7) MalaCards diseases for KMO Gene - From: COP and GCD

Disorder Aliases PubMed IDs
transient cerebral ischemia
  • tia
streptococcal meningitis
paroxysmal dyskinesia
  • paroxysmal choreoathetosis
huntington disease
  • hd
dystonia
  • dystonic disease
- elite association - COSMIC cancer census association via MalaCards
Search KMO in MalaCards View complete list of genes associated with diseases

Additional Disease Information for KMO

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 KMO: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KMO Gene

Publications for KMO Gene

  1. Cloning and functional expression of human kynurenine 3-monooxygenase. (PMID: 9237672) Alberati-Giani D … Malherbe P (FEBS letters 1997) 2 3 4 22
  2. Association study between kynurenine 3-monooxygenase gene and schizophrenia in the Japanese population. (PMID: 16716206) Aoyama N … Ozaki N (Genes, brain, and behavior 2006) 3 22 40
  3. Functional characterization and mechanism of action of recombinant human kynurenine 3-hydroxylase. (PMID: 10672018) Breton J … Isacchi A (European journal of biochemistry 2000) 3 4 22
  4. Structural Basis for Inhibitor-Induced Hydrogen Peroxide Production by Kynurenine 3-Monooxygenase. (PMID: 29429898) Kim HT … Hwang KY (Cell chemical biology 2018) 3 4
  5. Biochemistry and structural studies of kynurenine 3-monooxygenase reveal allosteric inhibition by Ro 61-8048. (PMID: 29208702) Gao J … Xiang Y (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2018) 3 4

Products for KMO Gene

Sources for KMO Gene