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AP4S1

Adaptor-related Protein Complex 4, Sigma 1 Subunit

AP4S1 is 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.

Gene Name: Adaptor-related Protein Complex 4, Sigma 1 Subunit
Synonyms: AP4S1, AP-4 complex subunit sigma-1, AP47B, CLA20, CLAPS4, Sigma4-adaptin, Sigma-1 subunit of AP-4, SPG52, CPSQ6, Sigma-4-adaptin
Target Sequences: NM_007077 NP_009008.2 Q9Y587

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PLEASE NOTE

For RESEARCH USE ONLY. Intended for use by laboratory professionals. Not intended for human diagnostic or therapeutic purposes.

The data on this page has been compiled from LifeSpan internal sources, the National Center for Biotechnology Information (NCBI), and The Universal Protein Resource (UniProt).