Transmembrane emp24 domain proteins in development and disease.

被引：48

作者：

Aber, Rachel ^{[1
]}

Chan, Wesley ^{[1
]}

Mugisha, Sevane ^{[2
]}

Jerome-Majewska, Loydie A. ^{[1
,3
,4
]}

机构：

[1] McGill Univ, Dept Anat & Cell Biol, Montreal, PQ, Canada

[2] McGill Univ, Dept Pharmacol & Therapeut, Montreal, PQ, Canada

[3] McGill Univ, Dept Human Genet, Montreal, PQ, Canada

[4] McGill Univ, Dept Pediat, Montreal, PQ, Canada

来源：

GENETICS RESEARCH | 2019年 / 101卷

基金：

加拿大自然科学与工程研究理事会;

关键词：

cargo receptor; development; disease; p24; TMED; PUTATIVE CARGO RECEPTORS; GPI-ANCHORED PROTEINS; P24; PROTEINS; PANCREATIC-ISLETS; COMPLEX-FORMATION; GAMMA-SECRETASE; QUALITY-CONTROL; DROSOPHILA P24; TRAFFICKING; TRANSPORT;

D O I：

10.1017/S0016672319000090

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Regulated transport through the secretory pathway is essential for embryonic development and homeostasis. Disruptions in this process impact cell fate, differentiation and survival, often resulting in abnormalities in morphogenesis and in disease. Several congenital malformations are caused by mutations in genes coding for proteins that regulate cargo protein transport in the secretory pathway. The severity of mutant phenotypes and the unclear aetiology of transport protein-associated pathologies have motivated research on the regulation and mechanisms through which these proteins contribute to morphogenesis. This review focuses on the role of the p24/transmembrane emp24 domain (TMED) family of cargo receptors in development and disease.

引用

页数：11

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