AP-1 complex subunit gamma-1
Definition:
Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. In association with AFTPH/aftiphilin in the aftiphilin/p200/gamma-synergin complex, involved in the trafficking of transferrin from early to recycling endosomes, and the membrane trafficking of furin and the lysosomal enzyme cathepsin D between the trans-Golgi network (TGN) and endosomes.
References:
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[1]. Jennifer Hirst, et al. The aftiphilin/p200/gamma-synergin complex. Mol Biol Cell. 2005 May;16(5):2554-65. [Content Brief]
[2]. Muhammad A Usmani, et al. De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy. Am J Hum Genet. 2021 Jul 1;108(7):1330-1341. [Content Brief]
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