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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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CTH
cystathionine gamma-lyase
Chromosome 1 Β· 1p31.1
NCBI Gene: 1491Ensembl: ENSG00000116761.13HGNC: HGNC:2501UniProt: P32929
120PubMed Papers
21Diseases
0Drugs
4Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein homotetramerizationprotein bindingpyridoxal phosphate bindingidentical protein bindingcystathioninuriaankylosing spondylitisgenetic disorderspondylolisthesis
✦AI Summary

CTH (cystathionine gamma-lyase) catalyzes the final step of the transsulfuration pathway, cleaving L-cystathionine into L-cysteine, ammonia, and 2-oxobutanoate in a pyridoxal-5'-phosphate-dependent manner 1. Beyond cysteine production, CTH generates the gaseous signaling molecule hydrogen sulfide (H2S) from L-cysteine and L-homocysteine substrates 1. CTH also mediates protein sulfhydration, converting cysteine residues to persulfides on targets like TFEB, regulating their function 2. H2S production by CTH participates in vasodilation, vascular protection, and inflammation regulation 1. In atherosclerosis, CTH-derived H2S activates TFEB-mediated autophagy in vascular smooth muscle cells, promoting collagen secretion and inhibiting apoptosis to stabilize atherosclerotic plaques 2. CTH expression correlates inversely with plaque vulnerability 2. In glioblastoma, CTH is essential for tumor invasion through transsulfuration pathway-mediated redox metabolism; CTH inhibition reduces tumor volume and stemness markers 34. The CTH/H2S axis also regulates abdominal aortic aneurysm development through macrophage ferroptosis 5. CTH gene mutations, including 1364T/T polymorphisms, elevate homocysteine levels, a risk factor for Alzheimer's disease 6. Bioinformatic analyses identify multiple previously unknown CTH mutations in lung adenocarcinoma patients 7. The primary disease association is cystathioninuria, caused by CTH deficiency.

Sources cited
1
CTH catalyzes cystathionine conversion to cysteine and produces H2S; CTH knockout mice have hypertension and reduced vascular relaxation
PMID: 24491890
2
CTH-H2S activates TFEB via sulfhydration at Cys212, promoting autophagy and collagen secretion in VSMCs; CTH expression correlates inversely with plaque vulnerability
PMID: 35090378
3
CTH is essential for glioblastoma invasion through transsulfuration pathway; CTH inhibition suppresses invasion in vitro and in vivo
PMID: 37971886
4
CTH genetic ablation reduces glioblastoma tumor volume and SOX2 expression; higher CTH correlates with worse glioma survival
PMID: 37300955
5
SENP3-mediated CTH deSUMOylation regulates macrophage ferroptosis and abdominal aortic aneurysm development
PMID: 40019399
6
CTH 1364T/T polymorphism causes hyperhomocysteinemia, a risk factor for Alzheimer's disease and cognitive loss
PMID: 30646578
7
Multiple CTH gene mutations identified in lung adenocarcinoma patients with potential therapeutic implications
PMID: 38107574
Disease Associationsβ“˜21
cystathioninuriaOpen Targets
0.73Strong
ankylosing spondylitisOpen Targets
0.32Weak
genetic disorderOpen Targets
0.19Weak
spondylolisthesisOpen Targets
0.16Weak
CholecystitisOpen Targets
0.15Weak
gram-negative bacterial infectionsOpen Targets
0.15Weak
ulcerative colitisOpen Targets
0.12Weak
parasitic infectionOpen Targets
0.12Weak
benign colon neoplasmOpen Targets
0.11Weak
breast cancerOpen Targets
0.11Weak
Febrile seizure (within the age range of 3 months to 6 years)Open Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.11Weak
neoplasmOpen Targets
0.10Weak
Subdural hemorrhageOpen Targets
0.10Weak
glioblastoma multiformeOpen Targets
0.10Suggestive
SepsisOpen Targets
0.09Suggestive
neuroendocrine neoplasmOpen Targets
0.09Suggestive
triple-negative breast cancerOpen Targets
0.09Suggestive
atrial fibrillationOpen Targets
0.08Suggestive
pachyonychia congenitaOpen Targets
0.08Suggestive
CystathioninuriaUniProt
Pathogenic Variants4
NM_001902.6(CTH):c.1064del (p.Thr355fs)Pathogenic
Cystathioninuria|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 355
NM_001902.6(CTH):c.793C>T (p.Arg265Ter)Likely pathogenic
Cystathioninuria
β˜…β˜†β˜†β˜†2016β†’ Residue 265
NM_001902.6(CTH):c.784_785del (p.Leu262fs)Pathogenic
Cystathioninuria
β˜†β˜†β˜†β˜†2003β†’ Residue 262
NM_001902.6(CTH):c.718C>G (p.Gln240Glu)Pathogenic
Cystathioninuria
β˜†β˜†β˜†β˜†2003β†’ Residue 240
View on ClinVar β†—
Related Genes
MTRProtein interaction99%AHCYProtein interaction98%BHMTProtein interaction98%CBSProtein interaction98%KYAT1Protein interaction98%BHMT2Protein interaction98%
Tissue Expression6 tissues
Liver
100%
Ovary
14%
Bone Marrow
5%
Brain
3%
Lung
3%
Heart
3%
Gene Interaction Network
Click a node to explore
CTHMTRAHCYBHMTCBSKYAT1BHMT2
PROTEIN STRUCTURE
Preparing viewer…
PDB3COG Β· 2.00 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.08LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.82 [0.63–1.08]
RankingsWhere CTH stands among ~20K protein-coding genes
  • #3,914of 20,598
    Most Researched120 Β· top quartile
  • #3,728of 5,498
    Most Pathogenic Variants4
  • #10,927of 17,882
    Most Constrained (LOEUF)1.08
Genes detectedCTH
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Vascular smooth muscle cell-derived hydrogen sulfide promotes atherosclerotic plaque stability via TFEB (transcription factor EB)-mediated autophagy.
PMID: 35090378
Autophagy Β· 2022
1.00
2
[Cystathionine Ξ³-lyase].
PMID: 24491890
Postepy Hig Med Dosw (Online) Β· 2014
0.90
3
NOS3 and CTH gene mutations as new molecular markers for detection of lung adenocarcinoma.
PMID: 38107574
PeerJ Β· 2023
0.80
4
The Human Cytomegalovirus, from Oncomodulation to Oncogenesis.
PMID: 30081496
Viruses Β· 2018
0.70
5
Epigenetic Factors in Late-Onset Alzheimer's Disease:
PMID: 30646578
Int J Mol Sci Β· 2019
0.60