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Shirley, MA 01464
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20700 44th Avenue W
Lynnwood, WA 98036
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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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