Griscelli Syndrome
Trp73 residue of Rab27a identified as key for interaction with Rab27a effectors
Published in Blood Weekly, May 29th, 2003
According to a study from France, "Rab27a is a member of the Rab family of small GTPase proteins, and thus far is the first member to be associated With a human disease (ie, the Griscelli syndrome type 2).
"Mutations in the Rab27a gene cause pigment as well it as cytotoxic granule transport defects, accounting for the partial albinism and severe immune disorder characteristics of this syndrome. So far, 3 Rab27a missense mutations have been identified. They open a unique opportunity to designate critical structural and functional residues of...
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Source: Blood Weekly (2003-05-29)
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