Article
Anorectal and urinary anomalies and aberrant retinoic acid metabolism in cytochrome P450 oxidoreductase deficiency.
Molecular genetics and metabolism - 1 Jul 2010
Fukami Maki, Nagai Toshiro, Mochizuki Hiroshi, Muroya Koji, Yamada Gen, Takitani Kimitaka, Ogata Tsutomu
Abstract excerpt
CONTEXT: Cytochrome P450 oxidoreductase (POR) is an electron donor for all microsomal P450 enzymes including CYP26 involved in inactivation of all-trans retinoic acid (atRA). Although previous studies in Por knockout mice suggest that atRA accumulation is relevant to various posterior organ abnormalities, a systematic analysis has not been performed for anorectal and urinary anomalies in patients with POR...
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