(alpha- and gamma-Adaptin Binding Protein (AAGAB))
The protein encoded by this gene interacts with the gamma-adaptin and alpha-adaptin subunits of complexes involved in clathrin-coated vesicle trafficking. Mutations in this gene are associated with type I punctate palmoplantar keratoderma. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012].
Stadler, Rexhepaj, Singan, Murphy, Pepperkok, Uhlén, Simpson, Lundberg: "Immunofluorescence and fluorescent-protein tagging show high correlation for protein localization in mammalian cells." in: Nature methods, Vol. 10, Issue 4, pp. 315-23, (2013) (PubMed).
Giehl, Eckstein, Pasternack, Praetzel-Wunder, Ruzicka, Lichtner, Seidl, Rogers, Graf, Langbein, Braun-Falco, Betz, Strom: "Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer." in: American journal of human genetics, Vol. 91, Issue 4, pp. 754-9, (2012) (PubMed).
Pohler, Mamai, Hirst, Zamiri, Horn, Nomura, Irvine, Moran, Wilson, Smith, Goh, Sandilands, Cole, Barton, Evans, Shimizu, Akiyama, Suehiro, Konohana, Shboul, Teissier, Boussofara, Denguezli, Saad et al.: "Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma. ..." in: Nature genetics, Vol. 44, Issue 11, pp. 1272-6, (2012) (PubMed).
Aliases for AAGAB 抗体
alpha and gamma adaptin binding protein (AAGAB) 抗体 alpha- and gamma-adaptin binding protein (Aagab) 抗体 2310007F21Rik 抗体 KPPP1 抗体 p34 抗体 P34 抗体 PPKP1 抗体 PPKP1A 抗体