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标题：Cloning and mutational analysis of human malonyl-coenzyme A decarboxylase
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作者：Jimin Gao ; Lewis Waber ; Michael J. Bennett 等
期刊名称：JLR Papers In Press
印刷版ISSN：0022-2275
电子版ISSN：1539-7262
出版年度：1999
卷号：40
期号：1
页码：178-182
语种：English
出版社：American Society for Biochemistry and Molecular Biology
摘要：Malonyl coenzyme A (CoA) decarboxylase (E.C.4. 1.1.9) catalyzes the conversion of malonyl CoA to acetyl CoA. The metabolic role of malonyl CoA decarboxylase has not been fully defined, but deficiency of the enzyme has been associated with mild mental retardation, seizures, hypotonia, cardiomyopathy, vomiting, hypoglycemia, metabolic acidosis, and malonic aciduria. Here we report the isolation and sequencing of the human gene encoding malonyl CoA decarboxylase, and the identification of a mutation causing malonyl CoA decarboxylase deficiency. Human malonyl CoA decarboxylase cDNA sequences were identified by homology to the goose gene, and the intron/exon boundaries were determined by direct sequencing of a PAC clone containing the entire human gene. The 1479 basepair human cDNA is 70 percent identical to the goose sequence, and the intron/exon boundaries are completely conserved between the two species. The genetic mutation underlying malonyl CoA decarboxylase deficiency was determined in a patient with clinical features of this defect, malonic aciduria, and markedly reduced malonyl CoA decarboxylase activity. —Gao, J., L. Waber, M. J. Bennett, K. M. Gibson, and J. C. Cohen. Cloning and mutational analysis of human malonyl-coenzyme A decarboxylase. J. Lipid Res. 1999. 40: 178–182.
关键词：microbodies ; mitochondria ; frameshift mutation ; metabolism ; inborn errors