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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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KYNU
kynureninase
Chromosome 2 Β· 2q22.2
NCBI Gene: 8942Ensembl: ENSG00000115919.16HGNC: HGNC:6469UniProt: Q16719
45PubMed Papers
22Diseases
0Drugs
23Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
GO:0043420kynureninase activityL-tryptophan catabolic processcytosolvertebral, cardiac, renal, and limb defects syndrome 2congenital vertebral-cardiac-renal anomalies syndromeencephalopathy due to hydroxykynureninuriaCatel-Manzke syndrome
✦AI Summary

KYNU (kynureninase) is a pyridoxal phosphate-dependent enzyme that catalyzes the conversion of L-kynurenine and L-3-hydroxykynurenine into anthranilic acid and 3-hydroxyanthranilic acid (3-HAA), respectively, with preference for the L-3-hydroxy form 1. As a key enzyme in the kynurenine pathway, KYNU participates in de novo NAD+ biosynthesis from tryptophan 12. Beyond its canonical metabolic role, KYNU functions as a radical-trapping antioxidant through 3-HAA production, protecting cells from ferroptotic death in cancer contexts 3. KYNU expression is upregulated by CD44 signaling in breast cancer and associates with tumor cell invasion and metastasis 4. In the tumor microenvironment, KYNU modulates macrophage polarization and promotes stemness remodeling through SOD2-dependent mitochondrial ROS regulation and endoplasmic reticulum stress responses 56. Pathogenic variants in KYNU cause NAD deficiency leading to congenital malformations including cardiac, vertebral, and renal defects; niacin supplementation prevents these defects 1. KYNU also functions protectively in acute kidney injury through caloric restriction-dependent NAD+ synthesis 2. Clinically, KYNU dysregulation is implicated in multiple malignancies and obesity-associated asthma, positioning it as a potential therapeutic target 78.

Sources cited
1
KYNU catalyzes kynurenine pathway reactions essential for NAD synthesis; loss-of-function variants cause NAD deficiency and congenital malformations
PMID: 28792876
2
KYNU produces 3-HAA which acts as a radical-trapping antioxidant to inhibit ferroptosis in cancer cells
PMID: 36627132
3
KYNU is upregulated by CD44-HA signaling and promotes breast cancer cell invasion and metastasis
PMID: 33486887
4
M2 macrophage-secreted KYNU promotes tumor stemness via SOD2-mtROS-ERO1Ξ±-UPR pathway in endometrial cancer
PMID: 40616124
5
KYNU ubiquitination remodeling stabilizes KYNU expression and suppresses M2 macrophage polarization in gastric cancer
PMID: 40365295
6
KYNU overexpression promotes apoptosis and reduces invasion in melanoma cells
PMID: 35893303
7
KYNU is essential for caloric restriction-mediated NAD+ synthesis and protection against acute kidney injury
PMID: 36758124
8
KYNU is identified as a key therapeutic target in pediatric obesity-associated asthma
PMID: 41366037
Disease Associationsβ“˜22
vertebral, cardiac, renal, and limb defects syndrome 2Open Targets
0.75Strong
congenital vertebral-cardiac-renal anomalies syndromeOpen Targets
0.61Moderate
encephalopathy due to hydroxykynureninuriaOpen Targets
0.58Moderate
Catel-Manzke syndromeOpen Targets
0.48Moderate
cataractOpen Targets
0.44Moderate
neurodegenerative diseaseOpen Targets
0.37Weak
pulmonary vascular congestionOpen Targets
0.33Weak
macular degenerationOpen Targets
0.32Weak
respiratory system diseaseOpen Targets
0.30Weak
Age-related cataractOpen Targets
0.28Weak
malunion fractureOpen Targets
0.27Weak
lens diseaseOpen Targets
0.27Weak
transient ischemic attackOpen Targets
0.26Weak
HematemesisOpen Targets
0.22Weak
allergic diseaseOpen Targets
0.22Weak
Visual field defectOpen Targets
0.20Weak
migraine disorderOpen Targets
0.19Weak
Abruptio PlacentaeOpen Targets
0.19Weak
Abnormal thrombosisOpen Targets
0.18Weak
injuryOpen Targets
0.18Weak
HydroxykynureninuriaUniProt
Vertebral, cardiac, renal, and limb defects syndrome 2UniProt
Pathogenic Variants23
NM_003937.3(KYNU):c.468T>A (p.Tyr156Ter)Pathogenic
Congenital NAD deficiency disorder|not provided|Vertebral, cardiac, renal, and limb defects syndrome 2
β˜…β˜…β˜†β˜†2025β†’ Residue 156
NM_003937.3(KYNU):c.902+1G>ALikely pathogenic
Vertebral, cardiac, renal, and limb defects syndrome 2|Clear cell carcinoma of kidney
β˜…β˜…β˜†β˜†2025
NM_003937.3(KYNU):c.1045_1051del (p.Phe349fs)Pathogenic
Congenital NAD deficiency disorder|Vertebral, cardiac, renal, and limb defects syndrome 2|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 349
NM_003937.3(KYNU):c.256dup (p.Tyr86fs)Pathogenic
not provided|Vertebral, cardiac, renal, and limb defects syndrome 2
β˜…β˜…β˜†β˜†2023β†’ Residue 86
NM_003937.3(KYNU):c.1282C>T (p.Arg428Trp)Pathogenic
Catel-Manzke syndrome|Congenital NAD deficiency disorder|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 428
NM_003937.3(KYNU):c.489del (p.Ala164fs)Pathogenic
Congenital NAD deficiency disorder|not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 164
NM_003937.3(KYNU):c.373_373+3delLikely pathogenic
KYNU-related disorder
β˜…β˜†β˜†β˜†2023
NM_003937.3(KYNU):c.903-2A>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2022
NM_003937.3(KYNU):c.967del (p.Ile323fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 323
NM_003937.3(KYNU):c.170-1G>TPathogenic
Congenital NAD deficiency disorder|Vertebral, cardiac, renal, and limb defects syndrome 2
β˜…β˜†β˜†β˜†2016
NM_003937.3(KYNU):c.326G>C (p.Trp109Ser)Pathogenic
Catel-Manzke syndrome
β˜…β˜†β˜†β˜†2012β†’ Residue 109
NC_000002.12:g.142877008_142961693delPathogenic
Catel-Manzke syndrome
β˜…β˜†β˜†β˜†2012
NM_003937.3(KYNU):c.989G>A (p.Arg330Gln)Pathogenic
Catel-Manzke syndrome|Vertebral, cardiac, renal, and limb defects syndrome 2
β˜…β˜†β˜†β˜†2012β†’ Residue 330
NM_003937.3(KYNU):c.825C>A (p.Tyr275Ter)Likely pathogenic
KYNU-related disorder
β˜…β˜†β˜†β˜†β†’ Residue 275
NM_003937.3(KYNU):c.510T>A (p.Tyr170Ter)Likely pathogenic
KYNU-related disorder
β˜…β˜†β˜†β˜†β†’ Residue 170
NM_003937.3(KYNU):c.1301G>A (p.Arg434Gln)Pathogenic
Vertebral, cardiac, renal, and limb defects syndrome 2
β˜†β˜†β˜†β˜†2025β†’ Residue 434
NM_003937.3(KYNU):c.737dup (p.Tyr246Ter)Likely pathogenic
KYNU-related disorder
β˜†β˜†β˜†β˜†2024β†’ Residue 246
NM_003937.3(KYNU):c.374-433_435+369delPathogenic
Vertebral, cardiac, renal, and limb defects syndrome 2
β˜†β˜†β˜†β˜†2024
NM_003937.3(KYNU):c.1035T>A (p.Ser345Arg)Pathogenic
Congenital NAD deficiency disorder|Vertebral, cardiac, renal, and limb defects syndrome 2
β˜†β˜†β˜†β˜†2024β†’ Residue 345
NM_003937.3(KYNU):c.361_363del (p.Lys121del)Pathogenic
Congenital NAD deficiency disorder|Vertebral, cardiac, renal, and limb defects syndrome 2
β˜†β˜†β˜†β˜†2024β†’ Residue 121
View on ClinVar β†—
Related Genes
TDO2Protein interaction98%KYAT3Protein interaction98%AADATProtein interaction96%CATProtein interaction91%SQLEProtein interaction82%COQ6Protein interaction81%
Tissue Expression6 tissues
Liver
100%
Lung
23%
Bone Marrow
14%
Brain
9%
Ovary
4%
Heart
2%
Gene Interaction Network
Click a node to explore
KYNUTDO2KYAT3AADATCATSQLECOQ6
PROTEIN STRUCTURE
Preparing viewer…
PDB3E9K Β· 1.70 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.36LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.97 [0.70–1.36]
RankingsWhere KYNU stands among ~20K protein-coding genes
  • #9,475of 20,598
    Most Researched45
  • #2,070of 5,498
    Most Pathogenic Variants23
  • #14,236of 17,882
    Most Constrained (LOEUF)1.36
Genes detectedKYNU
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Tryptophan Metabolism Acts as a New Anti-Ferroptotic Pathway to Mediate Tumor Growth.
PMID: 36627132
Adv Sci (Weinh) Β· 2023
1.00
2
GPX4 knockdown suppresses M2 macrophage polarization in gastric cancer by modulating kynurenine metabolism.
PMID: 40365295
Theranostics Β· 2025
0.90
3
M2 macrophage-secreted KYNU promotes stemness remodeling and malignant behavior in endometrial cancer via the SOD2-mtROS-ERO1Ξ±-UPR
PMID: 40616124
J Exp Clin Cancer Res Β· 2025
0.80
4
Differential Gene Expression and Methylation Analysis of Melanoma in TCGA Database to Further Study the Expression Pattern of KYNU in Melanoma.
PMID: 35893303
J Pers Med Β· 2022
0.70
5
PMID: 37499065
0.60