CTH Gene (Protein Coding)

Cystathionine Gamma-Lyase

GC01P070411
GIFtS:
50
This gene encodes a cytoplasmic enzyme in the trans-sulfuration pathway that converts cystathione derived from methionine into cysteine. Glutathione synthesis in the liver is dependent upon the availability of cysteine. Mutations in this gene cause cystathioninuria. Alternative splicing of this gene results in three transcript variants encoding different isoforms. [provided by ... See more...

Aliases for CTH Gene

Aliases for CTH Gene

  • Cystathionine Gamma-Lyase 2 3 4 5
  • Cystathionase (Cystathionine Gamma-Lyase) 2 3
  • Cysteine-Protein Sulfhydrase 3 4
  • Gamma-Cystathionase 3 4
  • EC 4.4.1.1 4 51
  • Cysteine Desulfhydrase 3
  • Homoserine Dehydratase 3
  • Homoserine Deaminase 3
  • EC 4.4.1 51
  • CTH 5

External Ids for CTH Gene

Previous GeneCards Identifiers for CTH Gene

  • GC01P071000
  • GC01P069799
  • GC01P070261
  • GC01P070246
  • GC01P070588
  • GC01P070649
  • GC01P070876
  • GC01P068987

Summaries for CTH Gene

Entrez Gene Summary for CTH Gene

  • This gene encodes a cytoplasmic enzyme in the trans-sulfuration pathway that converts cystathione derived from methionine into cysteine. Glutathione synthesis in the liver is dependent upon the availability of cysteine. Mutations in this gene cause cystathioninuria. Alternative splicing of this gene results in three transcript variants encoding different isoforms. [provided by RefSeq, Jun 2010]

GeneCards Summary for CTH Gene

CTH (Cystathionine Gamma-Lyase) is a Protein Coding gene. Diseases associated with CTH include Cystathioninuria and Homocysteinemia. Among its related pathways are Folate Metabolism and One carbon pool by folate. Gene Ontology (GO) annotations related to this gene include calmodulin binding and carbon-sulfur lyase activity.

UniProtKB/Swiss-Prot Summary for CTH Gene

  • Catalyzes the last step in the trans-sulfuration pathway from methionine to cysteine. Has broad substrate specificity. Converts cystathionine to cysteine, ammonia and 2-oxobutanoate. Converts two cysteine molecules to lanthionine and hydrogen sulfide. Can also accept homocysteine as substrate. Specificity depends on the levels of the endogenous substrates. Generates the endogenous signaling molecule hydrogen sulfide (H2S), and so contributes to the regulation of blood pressure. Acts as a cysteine-protein sulfhydrase by mediating sulfhydration of target proteins: sulfhydration consists of converting -SH groups into -SSH on specific cysteine residues of target proteins such as GAPDH, PTPN1 and NF-kappa-B subunit RELA, thereby regulating their function.

Additional gene information for CTH Gene

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

Genomics for CTH Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for CTH 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
GH01J070409 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 615.7 +0.7 731 4.9 SP1 HNRNPL CREB1 ATF7 TEAD4 PRDM10 REST ZNF629 TFE3 IKZF1 CTH lnc-ANKRD13C-4 HHLA3 ZRANB2 ANKRD13C SRSF11 ENSG00000278636 PTGER3
GH01J070042 Enhancer 1.1 FANTOM5 Ensembl 4.1 -369.2 -369217 2.4 LEF1 IKZF1 JUND PKNOX1 NR2C1 ZNF24 DPF2 SOX6 FOXJ2 GATAD2B LRRC7-AS1 RF00017-243 LRRC7 CTH LRRC40
GH01J070327 Enhancer 0.7 Ensembl ENCODE 6.1 -83.3 -83333 1.8 JUN JUND HIC1 GLIS1 FOS ZNF362 MZF1 CTH LRRC40 lnc-LRRC40-5 ANKRD13C HHLA3 SRSF11
GH01J070458 Enhancer 0.3 Ensembl 4.3 +47.3 47283 0.6 SPI1 HSALNG0004381 CTH LOC105378793 RF00017-246 PTGER3
GH01J070459 Enhancer 1 Ensembl ENCODE 0.3 +49.8 49783 2.8 LEF1 IKZF1 JUND PKNOX1 ZNF740 DPF2 HDAC1 SOX6 TCF12 SCRT2 ZRANB2 HHLA3 HSALNG0004381 RF00017-246 LOC105378793 CTH PTGER3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Top Transcription factor binding sites by QIAGEN in the CTH gene promoter:
  • AhR
  • AREB6
  • Arnt
  • c-Myc
  • CUTL1
  • FOXO1
  • FOXO1a
  • IRF-2
  • Max
  • Sox9

Genomic Locations for CTH Gene

Genomic Locations for CTH Gene
chr1:70,411,218-70,441,949
(GRCh38/hg38)
Size:
30,732 bases
Orientation:
Plus strand
chr1:70,876,901-70,905,534
(GRCh37/hg19)
Size:
28,634 bases
Orientation:
Plus strand

Genomic View for CTH Gene

Genes around CTH on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for CTH Gene

Proteins for CTH Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

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

    Protein Symbol:
    P32929-CGL_HUMAN
    Recommended name:
    Cystathionine gamma-lyase
    Protein Accession:
    P32929
    Secondary Accessions:
    • B4E1R2
    • E9PDV0
    • Q53FB3
    • Q53Y79
    • Q9H4W7
    • Q9H4W8

    Protein attributes for CTH Gene

    Size:
    405 amino acids
    Molecular mass:
    44508 Da
    Cofactor:
    Name=pyridoxal 5'-phosphate; Xref=ChEBI:CHEBI:597326;
    Quaternary structure:
    • Homotetramer. Interacts with CALM in a calcium-dependent manner (By similarity).

    Three dimensional structures from OCA and Proteopedia for CTH Gene

    Alternative splice isoforms for CTH Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CTH Gene

Protein Expression for CTH Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for CTH Gene

P32929:
  • RLRFLQNSLGAVPSP
  • FQHFATQAIH
  • NCLEKAVA
  • LVWIETPTNP
  • KLLEAAITP
  • VVDNTFMS
  • VYGGTNRYFR
  • YFQRPLALGADI
  • LGISDTLIRLSVG
  • RLSVGLED
  • VVPPISLS
  • EFGLKISFVDCSK
  • VEKVIYPGLPSHPQHEL

Post-translational modifications for CTH Gene

  • Ubiquitination at Lys73
  • Modification sites at PhosphoSitePlus

Other Protein References for CTH Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for CTH Gene

Gene Families for CTH Gene

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

Protein Domains for CTH Gene

InterPro:
Blocks:
  • Cys/Met metabolism pyridoxal-phosphate-dependent enzymes
ProtoNet:

Suggested Antigen Peptide Sequences for CTH Gene

GenScript: Design optimal peptide antigens:
  • Gamma-cystathionase (CGL_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P32929

UniProtKB/Swiss-Prot:

CGL_HUMAN :
  • Belongs to the trans-sulfuration enzymes family.
Family:
  • Belongs to the trans-sulfuration enzymes family.
genes like me logo Genes that share domains with CTH: view

Function for CTH Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for CTH Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the last step in the trans-sulfuration pathway from methionine to cysteine. Has broad substrate specificity. Converts cystathionine to cysteine, ammonia and 2-oxobutanoate. Converts two cysteine molecules to lanthionine and hydrogen sulfide. Can also accept homocysteine as substrate. Specificity depends on the levels of the endogenous substrates. Generates the endogenous signaling molecule hydrogen sulfide (H2S), and so contributes to the regulation of blood pressure. Acts as a cysteine-protein sulfhydrase by mediating sulfhydration of target proteins: sulfhydration consists of converting -SH groups into -SSH on specific cysteine residues of target proteins such as GAPDH, PTPN1 and NF-kappa-B subunit RELA, thereby regulating their function.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + L,L-cystathionine = 2-oxobutanoate + L-cysteine + NH4(+); Xref=Rhea:RHEA:14005, ChEBI:CHEBI:15377, ChEBI:CHEBI:16763, ChEBI:CHEBI:28938, ChEBI:CHEBI:35235, ChEBI:CHEBI:58161; EC=4.4.1.1; Evidence={ECO:0000269|PubMed:10212249, ECO:0000269|PubMed:19019829};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.5 mM for L-cystathionine {ECO:0000269|PubMed:10212249, ECO:0000269|PubMed:18476726}; KM=5.4 mM for homocysteine {ECO:0000269|PubMed:10212249, ECO:0000269|PubMed:18476726}; KM=3.5 mM for cysteine {ECO:0000269|PubMed:10212249, ECO:0000269|PubMed:18476726}; pH dependence: Optimum pH is 8.2. {ECO:0000269|PubMed:10212249, ECO:0000269|PubMed:18476726};
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by propargylglycine, trifluoroalanine and aminoethoxyvinylglycine.
GENATLAS Biochemistry:
cystathionase,sulfur aminoacid metabolism

Enzyme Numbers (IUBMB) for CTH Gene

Phenotypes From GWAS Catalog for CTH Gene

Gene Ontology (GO) - Molecular Function for CTH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004123 cystathionine gamma-lyase activity IBA,IDA 10212249
GO:0005515 protein binding IPI 22169477
GO:0005516 calmodulin binding IEA --
GO:0016829 lyase activity IEA --
genes like me logo Genes that share ontologies with CTH: view
genes like me logo Genes that share phenotypes with CTH: view

Human Phenotype Ontology for CTH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CTH Gene

MGI Knock Outs for CTH:
  • Cth Cth<tm1Iish>
  • Cth Cth<tm1Liwu>
  • Cth Cth<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

No data available for Transcription Factor Targets and HOMER Transcription for CTH Gene

Localization for CTH Gene

Subcellular locations from UniProtKB/Swiss-Prot for CTH Gene

Cytoplasm.

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 CTH gene
Compartment Confidence
cytosol 5
extracellular 4
mitochondrion 3
nucleus 3
plasma membrane 2
cytoskeleton 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CTH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with CTH: view

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

Pathways & Interactions for CTH Gene

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

UniProtKB/Swiss-Prot P32929-CGL_HUMAN

  • Pathway: Amino-acid biosynthesis; L-cysteine biosynthesis; L-cysteine from L-homocysteine and L-serine: step 2/2.

Gene Ontology (GO) - Biological Process for CTH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000098 sulfur amino acid catabolic process TAS --
GO:0006534 cysteine metabolic process TAS 1339280
GO:0008652 cellular amino acid biosynthetic process IEA --
GO:0018272 protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine IDA 19019829
GO:0019343 cysteine biosynthetic process via cystathionine IBA,IDA 19428278
genes like me logo Genes that share ontologies with CTH: view

No data available for SIGNOR curated interactions for CTH Gene

Drugs & Compounds for CTH Gene

Products:

  1. Drug

(29) Drugs for CTH Gene - From: DrugBank, PharmGKB, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cysteine Approved Nutra Target 250
Pyridoxal Phosphate Approved, Investigational Nutra Target, cofactor 16
cystine Approved Nutra 0
Busulfan Approved, Investigational Pharma 622
Cyclophosphamide Approved, Investigational Pharma Nitrogen mustard alkylating agent and prodrug. 3670

(12) Additional Compounds for CTH Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-Mercaptopyruvic acid
  • 3-mercapto-2-Oxopropanoic acid
  • 3-Mercaptopyruvate
  • Mercaptopyruvate
  • 3-mercapto-2-Oxopropanoate
  • Mercaptopyruvic acid
 2464-23-5
L-Cystathionine
  • (R)-S-(2-amino-2-Carboxyethyl)-L-homocysteine
  • L-(+)-Cystathionine
  • S-(beta-amino-beta-Carboxyethyl)homocysteine
  • S-(b-amino-b-Carboxyethyl)homocysteine
  • S-(β-amino-β-carboxyethyl)homocysteine
 56-88-2
Methaneselenol
  • Methaneselenol
Selenocystathionine
  • 2-amino-4-[(2-amino-2-Carboxyethyl)selanyl]butyric acid
  • Selenocystathionines
  • 2-amino-4-[(2-amino-2-Carboxyethyl)selanyl]butyrate
  • 2-amino-4-((2-amino-2-Carboxyethyl)seleno)-butanoate
  • 2-amino-4-((2-amino-2-Carboxyethyl)seleno)-butanoic acid
 2196-58-9
Thiocysteine
  • 3-(Thiosulfeno)-alanine
  • 3-Disulfanyl-L-alanine
 5652-32-4
genes like me logo Genes that share compounds with CTH: view

Transcripts for CTH Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for CTH Gene

3 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

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

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

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

Relevant External Links for CTH Gene

GeneLoc Exon Structure for
CTH

Expression for CTH Gene

Products:

  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for CTH Gene
mRNA expression by GTEx for CTH GenemRNA expression by BioGPS for CTH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Liver (x15.0) and Ovary (x6.2).

Protein differential expression in normal tissues from HIPED for CTH Gene

This gene is overexpressed in Liver, secretome (34.0), Liver (20.5), and Gallbladder (8.9).

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



Protein tissue co-expression partners for CTH Gene

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

SOURCE GeneReport for Unigene cluster for CTH Gene:

Hs.19904

Evidence on tissue expression from TISSUES for CTH Gene

  • Liver(4.7)
  • Kidney(4.6)
  • Skin(4.3)
  • Blood(3)
  • Nervous system(2.8)
  • Heart(2.7)
  • Muscle(2.6)
  • Pancreas(2.4)
  • Intestine(2.3)
  • Stomach(2.2)
  • Adrenal gland(2)

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

Germ Layers:
  • mesoderm
Systems:
  • urinary
Regions:
Abdomen:
  • kidney
genes like me logo Genes that share expression patterns with CTH: view

No data available for mRNA Expression by UniProt/SwissProt for CTH Gene

Orthologs for CTH Gene

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

Orthologs for CTH Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia CTH 30 31
  • 99.34 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia CTH 30 31
  • 90.07 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia CTH 30 31
  • 86.42 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Cth 30 17 31
  • 81.61 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Cth 30
  • 80.77 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia CTH 31
  • 75 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia CTH 31
  • 74 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves CTH 30 31
  • 74.7 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia CTH 31
  • 76 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia cth 30
  • 71.7 (n)
MGC75946 30
African clawed frog
(Xenopus laevis)
 Amphibia Xl.23893 30
Zebrafish
(Danio rerio)
 Actinopterygii cth 30 31
  • 69.78 (n)
 OneToMany
cthl 31
  • 69 (a)
 OneToMany
wufb48e03 30
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.10657 30
Fruit Fly
(Drosophila melanogaster)
 Insecta Eip55E 30 31 32
  • 59.39 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP011172 30
  • 56.97 (n)
Worm
(Caenorhabditis elegans)
 Secernentea cth-2 30 31
  • 60.61 (n)
 OneToMany
ZK1127.10 32
  • 59 (a)
F22B8.6 32
  • 56 (a)
cth-1 31
  • 55 (a)
 OneToMany
C12C8.2 32
  • 39 (a)
cbl-1 31
  • 33 (a)
 OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes CYS3 30 31 33
  • 55 (n)
 OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
 Saccharomycetes AGOS_AEL341W 30
  • 53.72 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0F07909g 30
  • 53.04 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.1723 31
  • 63 (a)
 OneToOne
Bread mold
(Neurospora crassa)
 Ascomycetes NCU09230 30
  • 52.52 (n)
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.11783 30
Species where no ortholog for CTH 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)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • 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 CTH Gene

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

Paralogs for CTH Gene

No data available for Paralogs for CTH Gene

Variants for CTH Gene

Products:

  1. SNP Genotyping and Copy Number Assay

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

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
874345 Uncertain Significance: Cystathioninuria 70,430,302(+) G/C INTRON_VARIANT
874346 Uncertain Significance: Cystathioninuria 70,430,355(+) T/C MISSENSE_VARIANT
874347 Uncertain Significance: Cystathioninuria 70,430,380(+) G/T MISSENSE_VARIANT
874348 Uncertain Significance: Cystathioninuria 70,430,404(+) A/G INTRON_VARIANT
874349 Uncertain Significance: Cystathioninuria 70,432,152(+) G/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for CTH Gene

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

Variant ID Type Subtype PubMed ID
nsv461828 CNV loss 19166990
nsv522935 CNV loss 19592680
nsv546455 CNV loss 21841781
nsv546456 CNV loss 21841781
nsv830137 CNV loss 17160897

Variation tolerance for CTH Gene

Residual Variation Intolerance Score: 65.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.69; 78.58% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CTH Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for CTH Gene

MalaCards: The human disease database

(9) MalaCards diseases for CTH Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cystathioninuria
  • cystathionase deficiency
homocysteinemia
  • hyperhomocysteinemia
methionine adenosyltransferase i/iii deficiency
  • mat deficiency
peptic ulcer disease
  • acute peptic ulcer with hemorrhage
hypermethioninemia
  • mat deficiency
- elite association - COSMIC cancer census association via MalaCards
Search CTH in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CGL_HUMAN
  • Cystathioninuria (CSTNU) [MIM:219500]: Autosomal recessive phenotype characterized by abnormal accumulation of plasma cystathionine, leading to increased urinary excretion. {ECO:0000269 PubMed:12574942, ECO:0000269 PubMed:18476726}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for CTH Gene

cystathionuria

Additional Disease Information for CTH

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

Publications for CTH Gene

  1. Cloning and nucleotide sequence of human liver cDNA encoding for cystathionine gamma-lyase. (PMID: 1339280) Lu Y … Israel Y (Biochemical and biophysical research communications 1992) 2 3 4 23
  2. Variations in folate pathway genes are associated with unexplained female infertility. (PMID: 19324355) Altmäe S … Nilsson TK (Fertility and sterility 2010) 3 23 41
  3. H2S biogenesis by human cystathionine gamma-lyase leads to the novel sulfur metabolites lanthionine and homolanthionine and is responsive to the grade of hyperhomocysteinemia. (PMID: 19261609) Chiku T … Banerjee R (The Journal of biological chemistry 2009) 3 4 23
  4. Structural basis for the inhibition mechanism of human cystathionine gamma-lyase, an enzyme responsible for the production of H(2)S. (PMID: 19019829) Sun Q … Sivaraman J (The Journal of biological chemistry 2009) 3 4 23
  5. Kinetic properties of polymorphic variants and pathogenic mutants in human cystathionine gamma-lyase. (PMID: 18476726) Zhu W … Banerjee R (Biochemistry 2008) 3 4 23

ExternalLinks

View latest publications for CTH gene in Mastermind

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