Ontology highlight
ABSTRACT:
SUBMITTER: Johnson AR
PROVIDER: S-EPMC2909292 | biostudies-literature | 2010 Aug
REPOSITORIES: biostudies-literature
Johnson Amy R AR Craciunescu Corneliu N CN Guo Zhong Z Teng Ya-Wen YW Thresher Randy J RJ Blusztajn Jan K JK Zeisel Steven H SH
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 20100406 8
Choline dehydrogenase (CHDH) catalyzes the conversion of choline to betaine, an important methyl donor and organic osmolyte. We have previously identified single nucleotide polymorphisms (SNPs) in the human CHDH gene that, when present, seem to alter the activity of the CHDH enzyme. These SNPs occur frequently in humans. We created a Chdh(-/-) mouse to determine the functional effects of mutations that result in decreased CHDH activity. Chdh deletion did not affect fetal viability or alter growt ...[more]