The mutation that causes the<unk>  occurs in the gene, AP1S1, which codes for the smallest subunit of the AP1 adaptor complex. The AP-1 complex is one of five Adaptor Protein complexes that are found in eukaryotic cells. AP complexes mediate trafficking linking clathrin or other coat proteins to receptors in coated vesicles, selectively sorting cargo between cell membrane, trans-Golgi network, and endosomal compartments. The AP-1 complex is found in the trans-Golgi network and is responsible for controlling AP-1-coated vesicles and the trafficking of the ATPase's ATP7A and ATP7B. A mutation in AP1S1 causes abnormal intracellular copper trafficking which subsequently affects copper-dependent enzymes leading to the symptoms of<unk>  disease.
MEDNIK syndrome
ATR-16 syndrome
ATR-X syndrome
ZTTK syndrome
CAMFAK syndrome
Treacher Collins syndrome
LIG4 syndrome
Dennie–Marfan syndrome