CCDC22 mutations that impair COMMD binding cause attenuated 3C/Ritscher-Schinzel syndrome

CCDC22 mutations that impair COMMD binding cause attenuated 3C/Ritscher-Schinzel syndrome

Abstract The CCC complex, composed of CCDC22, CCDC93, and ten proteins of the COMMD family, coordinates several critical steps required to recycle internalized plasma membrane proteins from endosomes to the cell surface. CCC interacts with Retriever, a trimeric cargo recognition complex comprising V...

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Bibliographic Details
Main Authors: Amika Singla, Carolyn Rogers, Mary-Joe Touma, Yassin El-Najjar, Alison Colley, Daniel J. Boesch, Daniel D. Billadeau, Jozef Gecz, Baoyu Chen, Ezra Burstein
Format: Article
Language:English
Published: BMC 2025-05-01
Series:BMC Medical Genomics
Subjects:
3 C syndrome
CCDC22
COMMD protein
Retriever
Ritscher-Schinzel syndrome
Online Access:https://doi.org/10.1186/s12920-025-02168-7
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