(alpha- and gamma-Adaptin Binding Protein (AAGAB))
Catégories
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].
antibodies-online.com est synonyme de produits de recherche de haute qualité. Cherchez, trouvez et commandez des outils avec des données de validation étendues, des images, des références. Notre service clientèle scientifique est toujours à votre disposition si vous avez des questions sur la sélection ou l'application de nos produits.
Stadler, Rexhepaj, Singan, Murphy, Pepperkok, Uhlén, Simpson, Lundberg: "Immunofluorescence and fluorescent-protein tagging show high correlation for protein localization in mammalian cells." dans: 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." dans: 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. ..." dans: Nature genetics, Vol. 44, Issue 11, pp. 1272-6, (2012) (PubMed).
Synonymes et noms alternatifs relatifs à AAGAB
alpha and gamma adaptin binding protein (AAGAB), alpha- and gamma-adaptin binding protein (Aagab), 2310007F21Rik, KPPP1, p34, P34, PPKP1, PPKP1A