MYO5Abase: Griscelli syndrome, type 1 (GS1)

Version 1.0 last updated 18 June, 2007 contains 2 public entries


Curated:	Mauno Vihinen
Maintained by:	Jouni Väliaho
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Short description of the MYO5Abase :

Defects in MYO5A cause Griscelli syndrome (GS) type 1 (GS1), an autosomal recessive disorder. Mutations in MYO5A may also cause a form of Griscelli syndrome (GS3) with a phenotype restricted to hypopigmentation. GS1 correspond to the 'dilute' phenotype in the mouse, and GS2 correspond to the 'ashen' phenotype in mouse.

Other IMT 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: MYO5Abase