Gene: CTH

Alternate names for this Gene: -

Gene Summary: 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1p31.1

Description of this Gene: cystathionine gamma-lyase

Type of Gene: protein-coding

rs28941785 in CTH gene and Cystathioninuria PMID 18476726 2008 Kinetic properties of polymorphic variants and pathogenic mutants in human cystathionine gamma-lyase.

PMID 12574942 2003 Genomic basis of cystathioninuria (MIM 219500) revealed by multiple mutations in cystathionine gamma-lyase (CTH).

PMID 20584029 2010 Ancient origin of the CTH alelle carrying the c.200C>T (p.T67I) variant in patients with cystathioninuria.

PMID 19428278 2009 Cystathionine gamma-lyase: Clinical, metabolic, genetic, and structural studies.

PMID 19019829 2009 Structural basis for the inhibition mechanism of human cystathionine gamma-lyase, an enzyme responsible for the production of H(2)S.

rs17131304 in CTH gene and High density lipoprotein measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs17131304 in CTH gene and Serum HDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.