Title : Genomic basis of cystathioninuria (MIM 219500) revealed by multiple mutations in cystathionine gamma-lyase (CTH).

Pub. Date : 2003 Apr

PMID : 12574942






1 Functional Relationships(s)
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1 Hereditary cystathioninuria (MIM 219500) is presumed to be caused by deficiency of the activity of cystathionine gamma-lyase (cystathionase; CTH EC 4.4.1.1), which is normally required for the conversion of methionine into cysteine. Cysteine cystathionine gamma-lyase Homo sapiens