AP4S1
Protein-coding gene in humans
From Wikipedia, the free encyclopedia
AP-4 complex subunit sigma-1 is a protein that in humans is encoded by the AP4S1 gene.[5]
AliasesAP4S1, AP47B, CLA20, CLAPS4, CPSQ6, SPG52, adaptor related protein complex 4 sigma 1 subunit, adaptor related protein complex 4 subunit sigma 1
External IDsOMIM: 607243; MGI: 1337065; HomoloGene: 32513; GeneCards: AP4S1; OMA:AP4S1 - orthologs
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| Aliases | AP4S1, AP47B, CLA20, CLAPS4, CPSQ6, SPG52, adaptor related protein complex 4 sigma 1 subunit, adaptor related protein complex 4 subunit sigma 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 607243; MGI: 1337065; HomoloGene: 32513; GeneCards: AP4S1; OMA:AP4S1 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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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]