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Immunogen sequence: LDEYFSRVSE LDVSFFNTVF HSTWQMHSGP YQEPIDELPK ICSALEPQQT CFSPDSSSFK GAASTT
Highest antigen sequence identity to the following orthologs: Mouse - 34%, Rat - 24%.
This gene encodes a member of the adaptor complexes small subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle formation and sorting of integral membrane proteins. The encoded protein is the small subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated vesicles. Mutations in this gene are associated with spastic quadriplegic cerebral palsy-6. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 6.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: adaptor related protein complex 4, sigma 1 subunit; Adaptor-related protein complex 4 subunit sigma-1; adaptor-related protein complex 4, sigma 1 subunit; AP-4 adapter complex subunit sigma-1; AP-4 adaptor complex subunit sigma-1; AP-4 complex subunit sigma-1; clathrin-associated/assembly/adaptor protein, sigma 4; Sigma-1 subunit of AP-4; Sigma-4-adaptin; Sigma4-adaptin
Gene Aliases: AP47B; AP4S1; CLA20; CLAPS4; CPSQ6; SPG52
UniProt ID: (Human) Q9Y587
Entrez Gene ID: (Human) 11154
Molecular Function: vesicle coat protein
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