人类疾病中的细胞内蛋白质运输缺陷。

Intracellular protein trafficking defects in human disease.

作者信息

Amara J F, Cheng S H, Smith A E

机构信息

Genzyme Corporation, One Mountain Road, Framingham, MA 01701, USA.

出版信息

Trends Cell Biol. 1992 May;2(5):145-9. doi: 10.1016/0962-8924(92)90101-r.

DOI:10.1016/0962-8924(92)90101-r

PMID:14731969

Abstract

Secretory proteins and integral membrane proteins travel through the secretory pathway to a variety of destinations. Their targets are often specified by signals in the amino acid sequence or signals added post-translationally. The KDEL sequence that retains soluble proteins in the endoplasmic reticulum and the mannose 6-phosphate group of lysosomal enzymes are well-characterized examples of targeting signals; other signals are less well understood. Given the complexity and importance of the intracellular trafficking pathways, it is perhaps not surprising that mutations that affect the trafficking of proteins are associated with some human genetic diseases.

摘要

分泌蛋白和整合膜蛋白通过分泌途径运输到各种目的地。它们的靶标通常由氨基酸序列中的信号或翻译后添加的信号指定。在内质网中保留可溶性蛋白的KDEL序列和溶酶体酶的甘露糖6-磷酸基团是靶向信号的典型例子；其他信号则了解较少。鉴于细胞内运输途径的复杂性和重要性，影响蛋白质运输的突变与一些人类遗传疾病相关或许并不奇怪。