LYSTbase: Chediak-Higashi syndrome

Version 1.0 last updated 16 June, 2011 contains 37 public entries


Curated:	Mauno Vihinen
Maintained by:	Jouni Väliaho
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Short description of the LYSTbase (previously known as CHS1base) :

Chediak-Higashi Syndrome (CHS) is a rare disorder of all lysosomal granule-containing cells. There is an abnormal intracellular transport to and from the lysosome, and giant inclusion bodies in a variety of cell types. The protein is involved in the vacuolar formation and transport of proteins. There is an uncontrolled granule fusion leading to defective granules in neutrophils, which fail in chemotaxis.

Other resourses:
Immunodeficiency Resource (IDR)
Immunodeficiency Mutation Databases (MUTbase)
IDdiagnostics

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