Article
Human betaine-homocysteine methyltransferase (BHMT) and BHMT2: common gene sequence variation and functional characterization.
Molecular genetics and metabolism - 1 Jul 2008
Li Fang, Feng Qiping, Lee Candace, Wang Shuzhan, Pelleymounter Linda L, Moon Irene, Eckloff Bruce W, Wieben Eric D, Schaid Daniel J, Yee Vivien, Weinshilboum Richard M
Abstract excerpt
Betaine-homocysteine methyltransferase (BHMT) catalyzes the remethylation of homocysteine. BHMT2 encodes a protein 73% identical in amino acid sequence to BHMT, but the function of BHMT2 remains unclear. We set out to identify and functionally characterize common genetic variation in BHMT and BHMT2. Specifically, we sequenced exons, exon-intron splice junctions and the 5'-flanking regions (5'-FRs) of BHMT and...
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