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Target intelligence / Profile preview
Ras-related protein Rab-27A (Rab27a)
- Target
- Rab27a
- Molecular classification
- Small GTPase, Ras superfamily, GTPase enzyme, Vesicle transport regulator
01
Overview
Ras-related protein Rab-27A is a member of the small GTPase superfamily (Rab family) that is membrane-bound and regulates vesicle trafficking, notably mediating the transport of melanosomes in pigment cells and the exocytosis of cytotoxic granules in T cells. Rab27a is widely expressed in specialized secretory, immune, and some endocrine cells, acting in concert with Rab3 proteins in regulated secretory events. Genetic mutations in RAB27A cause Griscelli syndrome type 2, characterized by pigment dilution and immunodeficiency, and are associated with hemophagocytic lymphohistiocytosis due to impaired regulated secretion in immune cells[1][2][3][4][6]. Rab27a acts by binding effector proteins in its GTP-bound state to regulate the positioning, maturation, and exocytosis of secretory vesicles in various cell types[3][4][8].
- Other names
- Rab-27ARAB27Amember RAS oncogene family
02
Mechanism of action
Modulation of vesicle trafficking and regulated exocytosis by binding to effector proteins in its GTP-bound active state
03
Biological functions
Vesicle traffickingProtein transportMelanosome transport in melanocytesRegulated secretion/exocytosis (notably in secretory, immune, and endocrine cells)Cytotoxic granule exocytosis in T-lymphocytes
04
Disease associations
Griscelli syndrome (type 2)Hemophagocytic lymphohistiocytosisPotential role in immune dysfunction
05
Safety considerations
Loss-of-function mutations result in severe immunodeficiency and pigmentary disordersGenetic deficiency leads to life-threatening complications such as uncontrolled immune activation and recurrent infections
06
Biomarkers
Prognostic marker in kidney chromophobe and rectum adenocarcinoma (according to protein expression data)Pigmentary abnormalities used for clinical recognition of Griscelli syndrome type 2
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