Transmembrane emp24 domain proteins in development and disease
| Autor: | Sevane Mugisha, Rachel Aber, Loydie A. Jerome-Majewska, Wesley Chan |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
Mutant
Morphogenesis Vesicular Transport Proteins macromolecular substances Review Biology Cell fate determination 03 medical and health sciences 0302 clinical medicine Genetics Animals Humans TMED Receptor Transport Vesicles development Secretory pathway 030304 developmental biology 0303 health sciences disease Membrane Proteins General Medicine Intracellular Membranes p24 Phenotype Transmembrane protein Cell biology Transport protein Protein Transport 030220 oncology & carcinogenesis cargo receptor Carrier Proteins |
| Zdroj: | Genetics Research |
| ISSN: | 1469-5073 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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