| 1 | AAGAB, PPPK1 |
| Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma. | |
| Pohler E, Mamai O, Hirst J, Zamiri M, Horn H, Nomura T, Irvine AD, Moran B, Wilson NJ, Smith FJ, Goh CS, Sandilands A, Cole C, Barton GJ, Evans AT, Shimizu H, Akiyama M, Suehiro M, Konohana I, Shboul M, Teissier S, Boussofara L, Denguezli M, Saad A, Gribaa M, Dopping-Hepenstal PJ, McGrath JA, Brown SJ, Goudie DR, Reversade B, Munro CS, McLean WH. | |
| Nat Genet 44(11):1272-6. doi: 10.1038/ng.2444. Epub 2012 Oct 14. 2012 | |
| 2 | AAGAB, PPPK1 |
| Nonsense Mutations in AAGAB Cause Punctate Palmoplantar Keratoderma Type Buschke-Fischer-Brauer. | |
| Giehl KA, Eckstein GN, Pasternack SM, Praetzel-Wunder S, Ruzicka T, Lichtner P, Seidl K, Rogers M, Graf E, Langbein L, Braun-Falco M, Betz RC, Strom TM. | |
| Am J Hum Genet 91(4):754-9. doi: 10.1016/j.ajhg.2012.08.024. Epub 2012 Sep 20. 2012 | |
| 3 | AAGAB |
| Gamma-synergin: an EH domain-containing protein that interacts with gamma-adaptin. | |
| Page LJ, Sowerby PJ, Lui WW, Robinson MS. | |
| J Cell Biol 146(5):993-1004. 1999 | |