1 | AP4B1, AP4DS, AP4E1, AP4S1, CPSQ5, CSPQ6 |
Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. | |
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. | |
Am J Hum Genet 88(6):788-95. Epub 2011 May 27. 2011 | |
2 | AP4B1, AP4E1, AP4M1, AP4S1 |
Characterization of a fourth adaptor-related protein complex. | |
Hirst J, Bright NA, Rous B, Robinson MS. | |
Mol Biol Cell 10(8):2787-802. 1999 | |