BLOC-2 complex member HPS5

Definition:

May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules. Regulates intracellular vesicular trafficking in fibroblasts. May be involved in the regulation of general functions of integrins.

References:

[1]. Marjan Huizing, et al. Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5. Traffic. 2004 Sep;5(9):711-22. [Content Brief]

[2]. Amanda Helip-Wooley, et al. Improper trafficking of melanocyte-specific proteins in Hermansky-Pudlak syndrome type-5. J Invest Dermatol. 2007 Jun;127(6):1471-8. [Content Brief]

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