Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Griscelli syndrome, type 2

Mode of inheritance:Autosomal recessive
Disease classification:Disorders involving the immune mechanism


Gene SymbolRAB27A
DNA Changedeletion of exon 3 and 4
A.A. Changeabsent Rab27a protein expression
Exon/Intronexon 3 and 4
Mutation Typedeletion
ReferenceWestbroek W, Lambert J, De Schepper S, Kleta R, Van Den Bossche K, Seabra MC, Huizing M, Mommaas M, Naeyaert JM.Rab27b is up-regulated in human Griscelli syndrome type II melanocytes and linked to the actin cytoskeleton via exon F-Myosin Va transcripts.
Pigment Cell Res. 2004 Oct;17(5):498-505.

  Variant not named according to HGVS recommendations