AP4S1 Proteins

Protein Information

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.

Synonyms

adapter-related protein complex 4 subunit sigma-1; adaptor related protein complex 4 sigma 1 subunit; adaptor related protein complex 4, sigma 1 subunit; adaptor-related protein complex 4 subunit sigma-1; adaptor-related protein complex 4, sigma 1 subunit; adaptor-related protein complex AP-4, sigma 1; AI314282; AP-4 adapter complex subunit sigma-1; AP-4 adaptor complex subunit sigma-1; AP-4 complex subunit sigma-1; AP47B; Ap4s1; CLA20; CLAPS4; clathrin-associated/assembly/adaptor protein, sigma 4; CPSQ6; Sigma-1 subunit of AP-4; sigma-4-adaptin; Sigma4-adaptin; SPG52