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Article

Functional characterization of two RAB27A missense mutations found in Griscelli syndrome type 2.

Pigment cell & melanoma research - 1 Jun 2010

Ohbayashi Norihiko, Mamishi Setareh, Ishibashi Koutaro, Maruta Yuto, Pourakbari Babak, Tamizifar Banafshe, Mohammadpour Masoud, Fukuda Mitsunori, Parvaneh Nima

Abstract excerpt

Human Griscelli syndrome type 2 (GS-2) is characterized by partial albinism and a severe immunologic disorder as a result of RAB27A mutations. In melanocytes, Rab27A forms a tripartite complex with a specific effector Slac2-a/melanophilin and myosin Va, and the complex regulates melanosome transport. Here, we report a novel homozygous missense mutation of Rab27A, i.e. K22R, in a Persian GS-2 patient and the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 20370853
DOI: 10.1111/j.1755-148X.2010.00705.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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