Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol CTH contributors: mct - updated : 03-07-2018
HGNC name cystathionase (cystathionine gamma-lyase)
HGNC id 2501
Corresponding disease
CTHD cystathioninuria
Location 1p31.1      Physical location : 70.876.900 - 70.905.534
Synonym name
  • homoserine deaminase
  • cysteine desulfhydrase
  • homoserine dehydratase
  • Cystathionine gamma-lyase
  • Synonym symbol(s) MGC9471, CSE
    EC.number 4.4.1.1
    DNA
    TYPE functioning gene
    STRUCTURE 28.63 kb     12 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence cytosine-phosphate-guanine/HTF
    text structure
  • DNA hypermethylation of CpG rich region in the promoter might contribute to the decrease of CSE transcription and H2S production in macrophages, and thus contribute to atherosclerosis development
  • MAPPING cloned Y linked   status provisional
    RNA
    TRANSCRIPTS type messenger
    text with two isoforms either derived from two different genes or spliced variants
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 2140 44.5 405 - 2004 15347670
    11 - 2008 - 361 - 2004 15347670
    11 - 2044 - 373 - 2004 15347670
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine    Mus musculus
     liver     Homo sapiens
     stomach     Mus musculus
    Endocrineadrenal gland     Mus musculus
    Visualeyeretina    Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer homomer , tetramer
    HOMOLOGY
    Homologene
    FAMILY trans-sulfuration enzymes family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    basic FUNCTION
  • involved in the final step in the trans-sulfuration pathway synthesizing L-cysteine from L-methionine
  • key enzyme in the trans-sulfuration pathway, which uses L-cysteine to produce hydrogen sulfide (H2S)
  • critical for cysteine biosynthesis through the transsulfuration pathway and the combination of CTH deficiency and lack of dietary cysteine supply would threaten life sustainability
  • one of the major enzymes for the production of hydrogen sulphide (H(2)S), a multifunctional gasotransmitter in the pancreatic beta-cell
  • although CTH is responsible for the H2S production in the heart, CTH proteins are undetectable in cardiomyocytes or heart tissues
  • protects likely against renal ischemia/reperfusion injury, likely by modulating oxidative stress through the production of H2S
  • is a key enzyme in the trans-sulfuration pathway responsible for the production of endogenous H2S
  • CBS and CTH are critical for maintenance of mitochondrial function and glucocorticoid production in adrenal cortex
  • is one major H2S-producing enzyme with L-cysteine as the main substrate in mammalian cells
  • the l-cysteine/CTH/H2 S pathway is involved in melanoma progression.
  • key role for the H2S-generating enzymes CBS and CTH in pulmonary vascular development and homeostasis and in lung alveolarization
  • is expressed in human atherosclerotic plaque microvessels and is involved in micro-angiogenesis
  • last key enzyme of the transsulfuration pathway, involved in the production of hydrogen sulfide (H2S) and glutathione (GSH), which regulate redox balance and act as important antioxidant molecules
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism aminoacid
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding, cofactor,
    pyridoxal-5'-phosphate
    protein
  • SP1 is a critical regulator of the CTH expression during smooth muscle cells differentiation
  • Ca(2+)-dependent CTH expression may be mediated via protein phosphorylation of SP1 and ELK1 in pancreatic beta-cells
  • NOX4 is a positive transcriptional regulator of CTH in endothelial cells and propose that it may in turn contribute to the regulation of vascular tone via the modulation of H2S production
  • cell & other
    REGULATION
    activated by physiologically activated by calcium-calmodulin, which is a mechanism for H2S formation in response to vascular activation
    Other in prostatic tissue, its expression were modulated by dihydrotestosterone
    can respond to hypoxia through transcriptional and post-transcriptional regulation, and CTH expression can be up-regulated by hypoxia to a certain extent
    ASSOCIATED DISORDERS
    corresponding disease(s) CTHD
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    stimulates smooth muscle cells apoptosis due to an increased endogenous production of H2S
    constitutional   deletion    
    CTH gene deletion exacerbated mitochondrial fragmentation and apoptosis of renal tubule cells after unilateral ureteral obstruction (UUO)
    Susceptibility to atherosclerosis
    Variant & Polymorphism SNP 1364T/T associated with higher homocysteine concentration and risk of atherosclerosis
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS