Chaparral Labs
back to search

protein

AP-1 complex subunit sigma-2

AP1S2
protein:P56377disease:adad:direction:up

Gene

AP1S2

Organism

Homo sapiens(9606)

Length

157 aa

Mass

18,615 Da

AI summarysource-grounded · cited inline
claude-haiku-4-5-20251001

AP-1 complex subunit sigma-2 (AP1S2) is a component of the clathrin-associated adaptor protein complex 1, which mediates protein sorting in the late-Golgi/trans-Golgi network and endosomes by recruiting clathrin to membranes and recognizing cargo sorting signals (UniProt: P56377). The protein functions in intracellular trafficking and membrane protein organization across multiple cellular compartments.

AP1S2 is associated with Pettigrew syndrome, an X-linked disorder characterized by intellectual disability, choreoathetosis, hydrocephalus, and seizures (UniProt: P56377). This link highlights the protein's importance in neurological function, particularly in developmental contexts.

AP1S2 is upregulated in Alzheimer's disease brain tissue. Human post-mortem AD brain compared to age-matched controls showed elevated AP1S2 levels across measured subcellular fractions, with a mean log2 fold-change of 1.03 (Chaparral AD proteomics). This upregulation suggests potential involvement in AD-related pathological processes, though the specific mechanistic contribution to neurodegeneration remains to be elucidated.

Generated from the curated entity record below. May contain errors — verify against source links.

Proteomics Evidence · AD

↑ Up in AD

P3

+1.065

P2

+0.986

S2

not detected

S3

not detected

Mean log₂FC across detected fractions: +1.0256 (2 of 4 fractions detected)

Human post-mortem AD brain vs age-matched controls, TMT-labeled, 4 subcellular fractions (P2, P3, S2, S3), DDA proteomics.

Related Publications

Browse all →

Function

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

Disease associations

  • Pettigrew syndromePGS

    An X-linked syndrome characterized by intellectual disability and additional highly variable features, including choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain. Intellectual disability is characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.

Sources

Last updated 5/8/2026, 6:32:27 AM