RAB27A è un gene codificato dal simbolo RAB27A. È noto anche come: Ras-related protein Rab-27A; Rab-27; GTP-binding protein Ram; RAB27. RAB27A ha una massa di 24.87kDa, una lunghezza di amminoacidi di 221, ed è implicato in Griscelli syndrome 2.
Offriamo 7 anticorpi contro RAB27A, allevati nel Coniglio e Capra, che sono adatti per WB, IHC e ICC/IF con campioni derivati da Umano, Topo, Ratto, Scimmia e Cane.
Informazioni su geni e proteine
Riepilogo UniProt
Small GTPase which cycles between active GTP-bound and inactive GDP-bound states. In its active state, binds to a variety of effector proteins to regulate homeostasis of late endocytic pathway, including endosomal positioning, maturation and secretion (PubMed:30771381). Plays a role in cytotoxic granule exocytosis in lymphocytes. Required for both granule maturation and granule docking and priming at the immunologic synapse.
Sommario di Entrez
The protein encoded by this gene belongs to the small GTPase superfamily, Rab family. The protein is membrane-bound and may be involved in protein transport and small GTPase mediated signal transduction. Mutations in this gene are associated with Griscelli syndrome type 2. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified.
Specificità del tessuto
Found in all the examined tissues except in brain. Low expression was found in thymus, kidney, muscle and placenta. Detected in melanocytes, and in most tumor cell lines examined. Expressed in cytotoxic T-lymphocytes (CTL) and mast cells.
Coinvolgimento nella malattia
Griscelli syndrome 2: Rare autosomal recessive disorder that results in pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes. GS2 patients also develop an uncontrolled T-lymphocyte and macrophage activation syndrome, known as hemophagocytic syndrome, leading to death in the absence of bone marrow transplantation. Neurological impairment is present in some patients, likely as a result of hemophagocytic syndrome.
Somiglianze di sequenza
Belongs to the small GTPase superfamily. Rab family.
Posizione cellulare
Membrane. Melanosome. Late endosome. Lysosome.
Identified by mass spectrometry in melanosome fractions from stage I to stage IV (PubMed:12643545, PubMed:17081065). Localizes to endosomal exocytic vesicles (PubMed:17237785).
