RAB27Abase: Griscelli syndrome, type 2 (GS2)

Version 1.1 last updated 6 June, 2011 contains 51 public entries


Curated:	Mauno Vihinen
Maintained by:	Jouni Väliaho
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Short description of the RAB27Abase :

Defects in RAB27A cause Griscelli syndrome type 2 (GS2). RAB27A regulates the cytotoxic granule exocytosis and affect T-lymphocyte and macrophage-activation. RABD27 encodes protein which is key effector of intracellular vesicular transport. Most 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.

Other IBT bioinformatics services:
Immunodeficiency Resource (IDR)
Immunodeficiency Mutation Databases (MUTbase)
IDdiagnostics
Immunome Knowledge Base (IKB) - An integrated service for immunome research
SH2base - Database for pathogenic SH2 domain mutations

IDbases are linked to University of California Santa Cruz (UCSC) genome browser: RAB27Abase