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首页> 外文期刊>Biochemical Genetics >Substitutions of Three Amino Acids in Human Heart/Muscle Type Carnitine Palmitoyltransferase I Caused by Single Nucleotide Polymorphisms
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Substitutions of Three Amino Acids in Human Heart/Muscle Type Carnitine Palmitoyltransferase I Caused by Single Nucleotide Polymorphisms

机译:由单核苷酸多态性引起的人心脏/肌肉型肉碱棕榈酰转移酶I中三个氨基酸的取代

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摘要

Heart/muscle type carnitine palmitoyltransferase I (M-CPTI) catalyzes the rate-limiting step of mitochondrial long-chain fatty acid (LCFA) oxidation in muscle and adipose tissue. Three replacements of nucleotides resulting in missense mutations of I66V, S427C, and E531K were observed in the M-CPTI gene of patients showing abnormal fatty acid metabolism. These nucleotide replacements were found to be common single nucleotide polymorphisms (SNPs) of this gene and not specific to patients. The question of whether these missense mutations caused by SNPs alter the functional properties of M-CPTI remains unanswered. Thus, we examined whether these missense mutations are associated with any changes in the enzymatic properties of M-CPTI. None of these mutations was found to cause remarkable alteration of its enzymatic properties. Based on the comparison of amino acid sequences of M-CPTI among different animal species, the roles of these amino acids in the enzyme are discussed.
机译:心脏/肌肉型肉毒碱棕榈酰转移酶I(M-CPTI)催化肌肉和脂肪组织中线粒体长链脂肪酸(LCFA)氧化的限速步骤。在表现出异常脂肪酸代谢的患者的M-CPTI基因中观察到三个核苷酸置换,导致I66V,S427C和E531K的错义突变。发现这些核苷酸替代是该基因的常见单核苷酸多态性(SNP),并且对患者不是特异性的。这些由SNP引起的错义突变是否会改变M-CPTI的功能特性的问题仍未得到解答。因此,我们检查了这些错义突变是否与M-CPTI酶学性质的任何变化有关。这些突变均未发现引起其酶学性质的显着改变。在比较不同动物物种中M-CPTI氨基酸序列的基础上,讨论了这些氨基酸在酶中的作用。

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