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AP4s1 encodes a member of the adaptor complexes small subunit protein family. Zusätzlich bieten wir Ihnen Adaptor Related Protein Complex 4 sigma 1 Proteine (3) und viele weitere Produktgruppen zu diesem Protein an.
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Identification of mutations in AP4S1/SPG52 in hereditary spastic paraplegia.
Premature stop mutations in AP4S1 result in loss of AP-4 (zeige REPIN1 Antikörper) complex assembly and cause fever-sensitive seizures, developmental delay and spastic paraplegia.
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.
AP-4 adapter complex subunit sigma-1
, AP-4 complex subunit sigma-1
, clathrin-associated/assembly/adaptor protein, sigma 4
, adapter-related protein complex 4 subunit sigma-1
, sigma-1 subunit of AP-4
, adaptor-related protein complex AP-4, sigma 1