Human S-adenosylhomocysteine hydrolase: common gene sequence variation and functional genomic characterization.

Abstract excerpt

S-Adenosylhomocysteine hydrolase (AHCY) is the only mammalian enzyme known to catalyze the hydrolysis of S-adenosylhomocysteine. We have used a genotype-to-phenotype strategy to study this important enzyme by resequencing AHCY in 240 DNA samples from four ethnic groups. Thirty-nine polymorphisms were identified - 28 of which were novel. Functional genomic studies for wild type AHCY and the three variant allozymes...

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