编码参与呼吸神经控制的锌金属肽酶的人类ECEL1（XCE）基因的组织定位和染色体定位。
Organization and chromosomal localization of the human ECEL1 (XCE) gene encoding a zinc metallopeptidase involved in the nervous control of respiration.
作者信息
Valdenaire O, Rohrbacher E, Langeveld A, Schweizer A, Meijers C
机构信息
INSERM U460, UFR X.Bichat, 75018 Paris, France.
出版信息
Biochem J. 2000 Mar 15;346 Pt 3(Pt 3):611-6.
Abstract
ECEL1 (endothelin-converting enzyme-like 1; previously known as XCE) is a putative zinc metalloprotease that was identified recently on the basis of its strong identity with endothelin-converting enzyme. Although the physiological function of ECEL1 is unknown, inactivation of the corresponding gene in mice points to a critical role of this protein in the nervous control of respiration. In the present study we have characterized the human ECEL1 gene. It was located to region q36-q37 of chromosome 2 and shown to be composed of 18 exons spanning approx. 8 kb. The structure of the ECEL1 gene displays some striking similarities with those of genes of related metallopeptidases, supporting the hypothesis that they are all derived from a common ancestor. A short phylogenetic study describing the relationship between the various members of this gene family is also presented.
摘要
内皮素转化酶样1（ECEL1；以前称为XCE）是一种推定的锌金属蛋白酶，它最近是基于与内皮素转化酶的高度同源性而被鉴定出来的。虽然ECEL1的生理功能尚不清楚，但小鼠中相应基因的失活表明该蛋白在呼吸的神经控制中起关键作用。在本研究中，我们对人类ECEL1基因进行了特征分析。它定位于2号染色体的q36-q37区域，由18个外显子组成，跨度约为8 kb。ECEL1基因的结构与相关金属肽酶的基因结构有一些显著的相似之处，支持了它们都起源于一个共同祖先的假说。本文还进行了一项简短的系统发育研究，描述了该基因家族各个成员之间的关系。
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