Department of Pathology & Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Curr Biol. 2012 Nov 20;22(22):R963-5. doi: 10.1016/j.cub.2012.10.005.
Prominent subtypes of the genetic disorder Hermansky-Pudlak syndrome result from defects in a mysterious protein complex, BLOC-3. New work identifies BLOC-3 as a guanine nucleotide exchange factor for two RAB GTPases previously implicated in lysosome-related organelle biogenesis.
遗传性疾病 Hermansky-Pudlak 综合征的突出亚型是由神秘蛋白复合物 BLOC-3 的缺陷引起的。新的研究工作将 BLOC-3 鉴定为两个 RAB GTPases 的鸟嘌呤核苷酸交换因子,这两个 RAB GTPases 先前与溶酶体相关细胞器的生物发生有关。