Genomes and Genes
Gene Symbol: AP4S1
Description: adaptor related protein complex 4 subunit sigma 1
Alias: AP47B, CLA20, CLAPS4, CPSQ6, SPG52, AP-4 complex subunit sigma-1, AP-4 adapter complex subunit sigma-1, AP-4 adaptor complex subunit sigma-1, adaptor related protein complex 4 sigma 1 subunit, clathrin-associated/assembly/adaptor protein, sigma 4, sigma-4-adaptin
- Abou Jamra R, Philippe O, Raas Rothschild A, Eck S, Graf E, Buchert R, et al. Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. Am J Hum Genet. 2011;88:788-795 pubmed publisher..one mutation in each of three genes encoding adaptor protein complex 4 (AP4) subunits: a nonsense mutation in AP4S1 (NM_007077.3: c.124C>T, p.Arg42(?)), a frameshift mutation in AP4B1 (NM_006594.2: c.487_488insTAT, p...
- Dell Angelica E, Mullins C, Bonifacino J. AP-4, a novel protein complex related to clathrin adaptors. J Biol Chem. 1999;274:7278-85 pubmed..We propose that, like the related AP-1, AP-2, and AP-3 complexes, AP-4 plays a role in signal-mediated trafficking of integral membrane proteins in mammalian cells. ..
- Hirst J, Bright N, Rous B, Robinson M. Characterization of a fourth adaptor-related protein complex. Mol Biol Cell. 1999;10:2787-802 pubmed..AP-4 is of relatively low abundance, but it is expressed ubiquitously, suggesting that it participates in a specialized trafficking pathway but one that is required in all cell types. ..
- Hardies K, May P, Djémié T, Tarta Arsene O, Deconinck T, Craiu D, et al. Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly. Hum Mol Genet. 2015;24:2218-27 pubmed publisher..delay and spastic paraplegia, in whom whole-genome sequencing revealed compound heterozygous mutations in the AP4S1 gene, encoding the ? subunit of the adaptor protein complex 4 (AP-4)...
- Tessa A, Battini R, Rubegni A, Storti E, Marini C, Galatolo D, et al. Identification of mutations in AP4S1/SPG52 through next generation sequencing in three families. Eur J Neurol. 2016;23:1580-7 pubmed publisher..Our investigations identified loss-of-function mutations in AP4S1/SPG52 in four children (three families) who had previously received a diagnosis of diplegic/quadriplegic CP...