The pallidin (Pldn) gene and the role of SNARE proteins in melanosome biogenesis |
| |
Authors: | Falcón-Pérez Juan M Dell'Angelica Esteban C |
| |
Institution: | Department of Human Genetics, University of California at Los Angeles (UCLA) School of Medicine, 90095, USA. |
| |
Abstract: | This review focuses on the product of the pallidin (Pldn) gene, one of a number of genes that in mice are associated with pigmentation defects and platelet dense granule deficiency. A similar combination of defects is also observed in patients suffering from Hermansky-Pudlak (HPS) and Chediak-Higashi (CHS) syndromes. Pldn encodes a novel, approximately 20-kDa protein that is expressed ubiquitously in mammalian tissues. The pallidin protein was found to bind to syntaxin 13, a member of the syntaxin family of soluble N-ethylmaleimide-sensitive factor attachment protein receptors (SNAREs). As SNARE proteins mediate fusion of intracellular membranes, pallidin may play a role in membrane fusion events required for melanosome biogenesis. |
| |
Keywords: | |
本文献已被 PubMed 等数据库收录! |
|