RAB27A

Gene name: RAB27A, member RAS oncogene family
OMIM ID: 603868
Chromosome location: 15q21.3

Mutations

Disease/Phenotype	Griscelli syndrome, type 2
DNA Change	deletion of exon 3 and 4
A.A. Change	absent Rab27a protein expression
Exon/Intron	exon 3 and 4
Mutation Type	deletion
Reference	Westbroek 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.

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  Variant not named according to HGVS recommendations