Gene Symbol | CTH |
Entrez Gene ID | 1491 |
Full Name | cystathionine gamma-lyase |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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. [provided by RefSeq, Jun 2010]. |
Disorder MIM: | |
Disorder Html: | Cystathioninuria, 219500 (3); Homocysteine, total plasma, elevated (3) |