Biology:AP4S1
From HandWiki
Short description: Protein-coding gene in humans
 Generic protein structure example |
AP-4 complex subunit sigma-1 is a protein that in humans is encoded by the AP4S1 gene.[1]
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).[1]
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.[2]
See also
References
- ↑ 1.0 1.1 "Entrez Gene: adaptor-related protein complex 4". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=11154.
- ↑ "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. May 2011. doi:10.1016/j.ajhg.2011.04.019. PMID 21620353.
External links
- Human AP4S1 genome location and AP4S1 gene details page in the UCSC Genome Browser.
Further reading
- "AP-4, a novel protein complex related to clathrin adaptors.". J. Biol. Chem. 274 (11): 7278–85. 1999. doi:10.1074/jbc.274.11.7278. PMID 10066790.
- "Characterization of a fourth adaptor-related protein complex.". Mol. Biol. Cell 10 (8): 2787–802. 1999. doi:10.1091/mbc.10.8.2787. PMID 10436028.
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