AP4S1
{{Short description|Protein-coding gene in humans}}
{{Infobox_gene}}
AP-4 complex subunit sigma-1 is a protein that in humans is encoded by the AP4S1 gene.{{cite web | title = Entrez Gene: adaptor-related protein complex 4| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=11154| accessdate = }}
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).
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.{{cite journal |vauthors=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 | title = Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature | journal = Am J Hum Genet | volume = 88| issue = 6| pages = 788–95|date=May 2011 | pmid = 21620353 | doi = 10.1016/j.ajhg.2011.04.019 | pmc=3113253}}
See also
References
{{Reflist}}
External links
- {{UCSC gene info|AP4S1}}
Further reading
{{refbegin | 2}}
- {{cite journal |vauthors=Dell'Angelica EC, Mullins C, Bonifacino JS |title=AP-4, a novel protein complex related to clathrin adaptors. |journal=J. Biol. Chem. |volume=274 |issue= 11 |pages= 7278–85 |year= 1999 |pmid= 10066790 |doi= 10.1074/jbc.274.11.7278|doi-access=free }}
- {{cite journal |vauthors=Hirst J, Bright NA, Rous B, Robinson MS |title=Characterization of a fourth adaptor-related protein complex. |journal=Mol. Biol. Cell |volume=10 |issue= 8 |pages= 2787–802 |year= 1999 |pmid= 10436028 |doi= 10.1091/mbc.10.8.2787|pmc=25515}}
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