功能： disease:Defects in RAB27A are a cause of Griscelli syndrome type-2 (GS2) [MIM:607624]. Griscelli syndrome is a 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.,online information:RAB27A mutation db,online information:Retina International's Scientific Newsletter,similarity:Belongs to the small GTPase superfamily. Rab family.,subcellular location:Identified by mass spectrometry in melanosome fractions from stage I to stage IV.,subunit:Binds SYTL1, SYTL2, SLAC2B, MYRIP, SYTL3, SYTL4 and SYTL5 (By similarity). Binds MLPH.,tissue specificity: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.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Membrane ; Lipid-anchor . 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). .
组织表达： 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.
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科研货号： PLA007026
RB27A Polyclonal Antibody
Catalog NoPLA007026
Product information
基因名称： RAB27A RAB27
蛋白名称： Ras-related protein Rab-27A (Rab-27) (GTP-binding protein Ram)
功能： disease:Defects in RAB27A are a cause of Griscelli syndrome type-2 (GS2) [MIM:607624]. Griscelli syndrome is a 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.,online information:RAB27A mutation db,online information:Retina International's Scientific Newsletter,similarity:Belongs to the small GTPase superfamily. Rab family.,subcellular location:Identified by mass spectrometry in melanosome fractions from stage I to stage IV.,subunit:Binds SYTL1, SYTL2, SLAC2B, MYRIP, SYTL3, SYTL4 and SYTL5 (By similarity). Binds MLPH.,tissue specificity: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.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Membrane ; Lipid-anchor . 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). .
组织表达： 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.
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