AP-4 complex subunit sigma-1 is a protein that in humans is encoded by the AP4S1 gene.
Function [ edit ]
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).
Clinical relevance [ edit ]
It is currently hypothesized that AP4-complex-mediated trafficking plays a crucial role in brain development and functioning.
See also [ edit ]
References [ edit ]
^ a b c
GRCh38: Ensembl release 89: ENSG00000100478 - Ensembl, May 2017
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GRCm38: Ensembl release 89: ENSMUSG00000020955 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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"Entrez Gene: adaptor-related protein complex 4".
Abou Jamra R, Philippe O, Raas-Rothschild A, Eck SH, Graf E, Buchert R, Borck G, Ekici A, Brockschmidt FF, Nöthen MM, Munnich A, Strom TM, Reis A, Colleaux L (May 2011). "Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature". Am J Hum Genet. 88 (6): 788–95. doi: 10.1016/j.ajhg.2011.04.019. PMC . 3113253 PMID 21620353.
External links [ edit ]
Further reading [ edit ]