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. [provided by RefSeq, Dec 2011]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| AP4S1-20-RE | 20 (40 μL) | 200 μL |  |
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| AP4S1-20-OR | 20 (40 μL) | 200 μL |  |
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| AP4S1-20-GO | 20 (40 μL) | 200 μL |  |
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| AP4S1-20-GR | 20 (40 μL) | 200 μL |  |
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| AP4S1-20-AQ | 20 (40 μL) | 200 μL |  |
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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. [provided by RefSeq, Dec 2011]
Gene Symbol : AP4S1
Gene Name : Adaptor related protein complex 4 sigma 1 subunit
Chromosome : CHR 14: 310,251,05-310,964,49
Locus : 14q12
Alt. Genes : HIPK3
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