Article
Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking.
American journal of human genetics - 5 Mar 2026
Chacon-Millan Pilar, Delicato Antonella, Mahmood Arif, Tirozzi Alfonsina, Monfregola Jlenia, Duroure Karine, Serafini Malo, Kroll François, El-Hage Océane, Salah Somaya, Atawneh Osama M, Atik Tahir, Durmusalioglu Enise Avcı, Isik Esra, Almontashiri Naif A M, Tabarki Brahim, Kanaan Moien, Rabie Grace, Torella Annalaura, Spampanato Carmine, Battaglia Domenica Immacolata, Begemann Anais, Steindl Katharina, Rauch Anita, Zweier Markus, Hajianpour Mj, Brigatti Karlla W, Alhashem Amal, Maroofian Reza, Feigerlova Eva, Lambert Laetitia, Feillet Francois, Abbott Mary-Alice, D'Alessio Alfonso Manuel, Gonzaga-Jauregui Claudia, Tawk Marcel, De Matteis Maria Antonietta, Del Bene Filippo, Zollino Marcella, Nigro Vincenzo, Venditti Rossella, Franco Brunella, Morleo Manuela
Abstract excerpt
The endoplasmic reticulum (ER) serves as a key hub for protein homeostasis, maintaining a strict quality-control system that ensures only properly folded proteins reach their destinations, while misfolded proteins are degraded via ER-associated degradation (ERAD) or selective ER-phagy. JKAMP, which encodes an ER-resident transmembrane protein involved in ERAD, has not previously been associated with human...
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