CTH

Name

cystathionine gamma-lyase

Type

protein-coding

Position

70,406,194–70,442,771 (+)

Aliases

CGL, CSE

Ensembl

ENSG00000116761

RefSeq RNA

NM_001190463.2, NM_001902.6, NM_153742.5, XM_017000416.3, XM_054334636.1

RefSeq protein

NP_001177392.1, NP_001893.2, NP_714964.2, XP_016855905.1, XP_054190611.1

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].