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AP4S1
Protein-coding gene in humans From Wikipedia, the free encyclopedia
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AP-4 complex subunit sigma-1 is a protein that in humans is encoded by the AP4S1 gene.[5]
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Function
The heterotetrameric adaptor protein (AP) complexes sort integral membrane proteins at various stages of the endocytic and secretory pathways. AP4 is composed of 2 large chains, beta-4 (AP4B1) and epsilon-4 (AP4E1), a medium chain, mu-4 (AP4M1), and a small chain, sigma-4 (AP4S1, this gene).[5]
Clinical relevance
Deficiency of AP-4 leads to childhood-onset hereditary spastic paraplegia and it is currently hypothesized that AP4-complex-mediated trafficking plays a crucial role in brain development and functioning.[6]
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