PAT complex subunit Asterix (WDR83OS)

PAT complex subunit Asterix (encoded by WDR83OS) is a 106-amino acid chaperone protein that partners with CCDC47 to form the PAT complex, which facilitates the correct folding and ER membrane integration of multi-pass transmembrane proteins. This function is critical for cellular proteostasis, especially in handling complex membrane proteins. Loss-of-function variants in WDR83OS are associated with a distinct neurodevelopmental disorder characterized by intellectual disability, facial dysmorphism, pruritus, and elevated bile acids, but with relatively normal bilirubin and mild or absent liver enzyme abnormalities. The gene is not known to be a direct therapeutic target (no known drugs interact with it), but is of interest for its basic cellular role and involvement in rare genetic disease phenotypes[1][2][3][5][6].

Other names

C19orf56CGI-140My006PTD008PAT-10PAT10Protein associated with the ER translocon of 10kDaWD repeat domain 83 opposite strandWDR83 opposite strandAsterixASTERIXNEDFHCAUPF0139 membrane protein C19orf56protein Asterix