8905
108012
ENSG00000182287
ENSMUSG00000031367
P56377Q549M9
Q9DB50
NM_001272071NM_003916NM_001368994NM_001369007NM_001369008
NM_001290378NM_001290379NM_026887
NP_003907.3
NP_001277307NP_001277308NP_081163
AP-1 complex subunit sigma-2 is a protein that in humans is encoded by the AP1S2 gene.[5][6][7]
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.[7]
Mutations of the AP1S2 gene cause the Pettigrew syndrome,[8] 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.[9]
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