Article
The gene for the muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defines a novel protein which regulates vesicle trafficking.
Human molecular genetics - 15 Mar 2002
Zhang Qing, Li Wei, Novak Edward K, Karim Amna, Mishra Vishnu S, Kingsmore Stephen F, Roe Bruce A, Suzuki Tamio, Swank Richard T
Abstract excerpt
The muted (mu) mouse is a model for Hermansky-Pudlak Syndrome (HPS), an inherited disorder of humans causing hypopigmentation, hemorrhaging and early death due to lung abnormalities. The mu gene regulates the synthesis of specialized mammalian organelles such as melanosomes, platelet dense granules and lysosomes. Further, balance defects indicate that it controls the synthesis of otoliths of the inner ear. The mu...
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