The pallidin (Pldn) gene and the role of SNARE proteins in melanosome biogenesis

被引：17

作者：

Falcón-Pérez, JM ^{[1
]}

Dell'Angelica, EC ^{[1
]}

机构：

[1] Univ Calif Los Angeles, Sch Med, Dept Human Genet, Los Angeles, CA 90095 USA

来源：

PIGMENT CELL RESEARCH | 2002年 / 15卷 / 02期

关键词：

Hermansky-Pudlak syndrome; protein trafficking; vesicle fusion; platelet dense granule;

D O I：

10.1034/j.1600-0749.2002.1r082.x

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

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, similar to20-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.

引用

页码：82 / 86

页数：5

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