ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects.

doi:10.1016/j.ajhg.2016.06.011

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Article

ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects.

American journal of human genetics - 4 Aug 2016

Izumi Kosuke, Brett Maggie, Nishi Eriko, Drunat Séverine, Tan Ee-Shien, Fujiki Katsunori, Lebon Sophie, Cham Breana, Masuda Koji, Arakawa Michiko, Jacquinet Adeline, Yamazumi Yusuke, Chen Shu-Ting, Verloes Alain, Okada Yuki, Katou Yuki, Nakamura Tomohiko, Akiyama Tetsu, Gressens Pierre, Foo Roger, Passemard Sandrine, Tan Ene-Choo, El Ghouzzi Vincent, Shirahige Katsuhiko

Abstract excerpt

Cellular homeostasis is maintained by the highly organized cooperation of intracellular trafficking systems, including COPI, COPII, and clathrin complexes. COPI is a coatomer protein complex responsible for intracellular protein transport between the endoplasmic reticulum and the Golgi apparatus. The importance of such intracellular transport mechanisms is underscored by the various disorders, including skeletal...

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PMID: 27476655
DOI: 10.1016/j.ajhg.2016.06.011
PMCID: PMC4974084

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ARCN1

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