期刊
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS
卷 1529, 期 1-3, 页码 340-356出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/S1388-1981(00)00159-1
关键词
cholesterol biosynthesis; metabolic disease; sterol triangle(7)-reductase; embryogenesis; morphogenesis
In recent years, several inherited human disorders caused by defects in cholesterol biosynthesis have been identified. These are characterized by malformations, multiple congenital anomalies, mental and growth retardation and/or skeletal and skin abnormalities indicating a pivotal role of cholesterol in morphogenesis and embryonic development. The first recognized and most common of these developmental disorders is Smith-Lemli-Opitz syndrome, an autosomal recessive trait caused by mutations in the DHCR7 gene resulting in a deficiency of the encoded sterol Delta (7)-reductase, alternatively called 7-dehydrocholesterol reductase (EC 1.3.1.21). This enzyme catalyzes the final step in cholesterol biosynthesis, which is the reduction of the Delta (7) double bond of 7-dehydrocholesterol to produce cholesterol. (C) 2000 Elsevier Science B.V. All rights reserved.
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