Article
Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia.
American journal of human genetics - 7 Nov 2024
Barish Scott, Lin Sheng-Jia, Maroofian Reza, Gezdirici Alper, Alhebby Hamoud, Trimouille Aurélien, Biderman Waberski Marta, Mitani Tadahiro, Huber Ilka, Tveten Kristian, Holla Øystein L, Busk Øyvind L, Houlden Henry, Ghayoor Karimiani Ehsan, Beiraghi Toosi Mehran, Shervin Badv Reza, Najarzadeh Torbati Paria, Eghbal Fatemeh, Akhondian Javad, Al Safar Ayat, Alswaid Abdulrahman, Zifarelli Giovanni, Bauer Peter, Marafi Dana, Fatih Jawid M, Huang Kevin, Petree Cassidy, Calame Daniel G, von der Lippe Charlotte, Alkuraya Fowzan S, Wali Sami, Lupski James R, Varshney Gaurav K, Posey Jennifer E, Pehlivan Davut
Abstract excerpt
WD repeat domain 83 opposite strand (WDR83OS) encodes the 106-aa (amino acid) protein Asterix, which heterodimerizes with CCDC47 to form the PAT (protein associated with ER translocon) complex. This complex functions as a chaperone for large proteins containing transmembrane domains to ensure proper folding. Until recently, little was known about the role of WDR83OS or CCDC47 in human disease traits. However,...
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