AP1S2
protein-coding gene in the species Homo sapiens
AP-1 complex subunit sigma-2 is a protein that in humans is encoded by the AP1S2 gene.
Function
Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembrane receptors. This complex is a heterotetramer composed of two large, one medium, and one small adaptin subunit. The protein encoded by this gene serves as the small subunit of this complex and is a member of the adaptin protein family. Transcript variants utilizing alternative polyadenylation signals exist for this gene.
Pathology
Mutations of the AP1S2 gene cause the Pettigrew syndrome, which is characterized by mental retardation and additional highly variable features, including choreoathetosis, hydrocephalus, Dandy–Walker malformation, seizures, and iron or calcium deposition in the brain.
References
External links
Human AP1S2 genome location and AP1S2 gene details page in the UCSC Genome Browser.
“AP1S2” enters the record as protein-coding gene in the species Homo sapiens. Crown Archives preserves that source wording while asking what AP1S2, protein-coding and gene can confirm, complicate or overturn.
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Datasets, specimens, observations and peer-reviewed methods provide the appropriate test for the technical claims summarized here. The source revision retrieved here is dated Sep 15, 2026. The linked authority identifier is Q18033520. None of the 0 selected statements returned an explicit reference.
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This entry incorporates text from “AP1S2” on English Wikipedia. Contributors are listed in the page history. Text is available under the Creative Commons Attribution-ShareAlike 4.0 License. Selected authority identifiers and statements are retrieved from Wikidata under CC0; their references and qualifiers remain part of the verification path.