Griscelli syndrome, type 2
OMIM:607624Mode of inheritance:Autosomal recessive
Disease classification:Disorders involving the immune mechanism
Mutations
| Gene Symbol | RAB27A |
|---|---|
| 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. |
Variant not named according to HGVS recommendations