The pallidin (Pldn) gene and the role of SNARE proteins in melanosome biogenesis.
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.
Falcón-Pérez
Juan M
JM
Department of Human Genetics, University of California at Los Angeles (UCLA) School of Medicine, 90095, USA.
Dell'Angelica
Esteban C
EC
D017398:Alternative Splicing; D000818:Animals; D002352:Carrier Proteins / Q000235:genetics* / Q000378:metabolism*; D015870:Gene Expression; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D037102:Lectins; D020460:Melanosomes / Q000502:physiology*; D008565:Membrane Proteins / Q000378:metabolism*; D051379:Mice; D008817:Mice, Mutant Strains; D050765:Qa-SNARE Proteins; D050600:SNARE Proteins; D033921:Vesicular Transport Proteins
C400284:BLOC1S6 protein, human; C513476:Bloc1s6 protein, mouse; D002352:Carrier Proteins; D047908:Intracellular Signaling Peptides and Proteins; D037102:Lectins; D008565:Membrane Proteins; D050765:Qa-SNARE Proteins; D050600:SNARE Proteins; D033921:Vesicular Transport Proteins