Suppr超能文献

遗传性痉挛性截瘫:酵母的线粒体金属蛋白酶

Hereditary spastic paraplegia: mitochondrial metalloproteases of yeast.

作者信息

Pearce D A

机构信息

Department of Biochemistry and Biophysics, University of Rochester School of Medicine and Dentistry, NY 14642, USA.

出版信息

Hum Genet. 1999 Jun;104(6):443-8. doi: 10.1007/s004390050985.

Abstract

Hereditary spastic paraplegia (HSP) is a genetically heterogenous group of inherited neurodegenerative disorders. Recently, an autosomal recessive form of HSP was mapped to 16q24.3, and subsequently the defective gene associated to HSP was identified and designated SPG7. The SPG7 gene product was predicted to encode a protein of 795 amino acids, and is called paraplegin. Paraplegin is highly homologous to a class of well studied yeast ATP-dependent zinc metalloproteases, which show 55%, 55% and 52% identity, respectively, to Afg3p, Rca1p and Yme1p. Mutation of either Afg3p, Rca1p or Yme1p in yeast results in pleiotropic effects with regard to growth, respiration and, particularly, in the assembly and/or degradation of more than one mitochondrial protein complex. Taking into account the homology of paraplegin to these yeast ATP-dependent zinc metalloproteases and what is known about their function, allows us to speculate as to what function paraplegin plays in normal individuals.

摘要

遗传性痉挛性截瘫(HSP)是一组具有遗传异质性的遗传性神经退行性疾病。最近,一种常染色体隐性形式的HSP被定位到16q24.3,随后与HSP相关的缺陷基因被鉴定出来并命名为SPG7。SPG7基因产物预计编码一种由795个氨基酸组成的蛋白质,称为截瘫蛋白。截瘫蛋白与一类经过充分研究的酵母ATP依赖性锌金属蛋白酶高度同源,它们与Afg3p、Rca1p和Yme1p的同一性分别为55%、55%和52%。酵母中Afg3p、Rca1p或Yme1p的突变会对生长、呼吸产生多效性影响,特别是会影响不止一种线粒体蛋白复合物的组装和/或降解。考虑到截瘫蛋白与这些酵母ATP依赖性锌金属蛋白酶的同源性以及已知的它们的功能,使我们能够推测截瘫蛋白在正常个体中发挥的功能。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验