KEGG VARIANT: 5873v1

VARIANT: 5873v1

Entry

5873v1                      Variant

Name

RAB27A mutation

Type

Loss of function

Gene

RAB27A RAB27A, member RAS oncogene family [KO:K07885]

Organism

hsa_var Human gene variants (Homo sapiens)

Variation

mutations
OmimVar: 603868

Network

nt06541 Cytoskeleton in neurons

Disease

Griscelli syndrome

Reference

Authors

Menasche G, Pastural E, Feldmann J, Certain S, Ersoy F, Dupuis S, Wulffraat N, Bianchi D, Fischer A, Le Deist F, de Saint Basile G

Title

Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome.

Journal

Nat Genet 25:173-6 (2000)
DOI:10.1038/76024

Reference

Authors

Van Gele M, Dynoodt P, Lambert J

Title

Griscelli syndrome: a model system to study vesicular trafficking.

Journal

Pigment Cell Melanoma Res 22:268-82 (2009)
DOI:10.1111/j.1755-148X.2009.00558.x

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