Title : Homocystinuria. Evidence for three distinct classes of cystathionine beta-synthase mutants in cultured fibroblasts.

Pub. Date : 1978 Mar

PMID : 641146






2 Functional Relationships(s)
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1 Two of these lines showed a five- and sevenfold stimulation of cystathionine beta-synthase activity with added pyridoxal-5"-phosphate; in the other four, the cofactor addition increased activity only modestly, as in controls. Pyridoxal Phosphate cystathionine beta-synthase Homo sapiens
2 We conclude that at least three general classes of cystathionine beta-synthase mutants exist: those with no residual activity; those with reduced activity and normal affinity for pyridoxal-5" phosphate; and those with reduced activity and a reduced affinity for the cofactor. Pyridoxal Phosphate cystathionine beta-synthase Homo sapiens