RAB27A ist ein Gen, das durch das Symbol RAB27A kodiert wird. Es ist auch bekannt als: Ras-related protein Rab-27A; Rab-27; GTP-binding protein Ram; RAB27. RAB27A hat eine Masse von 24.87kDa, eine Aminosäurelänge von 221, und ist an Griscelli syndrome 2 beteiligt.
Wir bieten 7 antikörper gegen RAB27A, aufgewachsen in Kaninchen und Ziege, welche geeignet sind für WB, IHC and ICC/IF mit Proben abgeleitet von Human, Maus, Ratte, Affe und Hund.
Gen- und Proteininformationen
UniProt Zusammenfassung
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.
Entrez Zusammenfassung
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.
Gewebespezifität
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.
Rolle bei Krankheiten
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.
Sequenzähnlichkeiten
Belongs to the small GTPase superfamily. Rab family.
Zellort
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).
