Genomes and Genes
Gene Symbol: Ap4s1
Description: adaptor-related protein complex AP-4, sigma 1
Alias: AI314282, AP-4 complex subunit sigma-1, AP-4 adapter complex subunit sigma-1, adapter-related protein complex 4 subunit sigma-1, sigma4-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. ..
- Fink J. Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. Acta Neuropathol. 2013;126:307-28 pubmed publisher..g. SPG47/AP4B1, SPG48/KIAA0415, SPG50/AP4M1, SPG51/AP4E, SPG52/AP4S1, and VSPG53/VPS37A). The availability of animal models (including bovine, murine, zebrafish, Drosophila, and C...
- Wang H, Xu Y, Chen M, Shang Q, Sun Y, Zhu D, et al. Genetic association study of adaptor protein complex 4 with cerebral palsy in a Han Chinese population. Mol Biol Rep. 2013;40:6459-67 pubmed publisher..AP-4 consists of four subunits encoded by the AP4E1, AP4B1, AP4M1, and AP4S1 genes...
- 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)...