The building BLOC(k)s of lysosomes and related organelles.
Hermansky-Pudlak syndrome defines a group of genetic disorders characterized by defects in organelles of the endosomal-lysosomal system, most notably melanosomes and platelet-dense granules. About a dozen genes have been implicated in the pathogenesis of the disease in humans and mice. Most of these genes encode novel polypeptides that are not conserved in unicellular eukaryotes. Recent studies have revealed that these polypeptides are stable components of at least three distinct, ubiquitously expressed protein complexes, named biogenesis of lysosome-related organelles complex (BLOC)-1, -2 and -3. These findings provide a framework for studies on the function of these proteins and the pathogenesis of Hermansky-Pudlak syndrome.
Dell'Angelica
Esteban C
EC
Department of Human Genetics, David Geffen School of Medicine at UCLA, Gonda Center 6357B, Los Angeles, California 90095-7088, USA. edellangelica@mednet.ucla.edu
D000818:Animals; D002352:Carrier Proteins / Q000378:metabolism*; D022861:Hermanski-Pudlak Syndrome / Q000378:metabolism*; D006801:Humans; D008247:Lysosomes / Q000378:metabolism*; D020460:Melanosomes / Q000378:metabolism; D009419:Nerve Tissue Proteins; D015388:Organelles / Q000378:metabolism*; D011506:Proteins
C104378:BLOC1S1 protein, human; C492647:BLOC1S2 protein, human; C509457:BLOC1S3 protein, human; D002352:Carrier Proteins; D009419:Nerve Tissue Proteins; D011506:Proteins