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'''AP1S2''' is a gene in humans that encodes the AP-1 complex subunit sigma-2 protein. This protein is part of the adaptor-related protein complex 1 (AP-1), which is located at the trans-Golgi network, where it mediates the sorting and dispatch of proteins to different destinations in the cell.

== Function ==
The [[AP-1 complex]] is involved in the formation of clathrin-coated vesicles and is responsible for the selection of cargo proteins to be included in these vesicles. The AP1S2 protein is one of the four subunits of the AP-1 complex. It is involved in clathrin-dependent trafficking between the trans-Golgi network and the endosomes. Mutations in the AP1S2 gene can lead to [[X-linked intellectual disability]].

== Clinical significance ==
Mutations in the AP1S2 gene have been associated with [[Pettigrew syndrome]], an X-linked intellectual disability syndrome. This syndrome is characterized by intellectual disability, epilepsy, and peripheral neuropathy. Other features can include growth retardation, microcephaly, and dysmorphic facial features.

== See also ==
* [[Adaptor protein]]
* [[Clathrin]]
* [[Trans-Golgi network]]
* [[Endosome]]
* [[Pettigrew syndrome]]

== References ==
<references />

[[Category:Human proteins]]
[[Category:Genes]]
[[Category:Medical genetics]]
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AP1S2 - Revision history

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