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Study found that Pldn is present at presynaptic terminals, where it localizes to synaptic microtubules and the cytoskeleton; while pallidin does not have major roles in synaptic growth, structure, or function under basal conditions, pallidin is crucial to maintain the releasable synaptic vesicle pool during conditions of high activity. Stability of Pldn depends crucially on the BLOC-1 subunits dysbindin (显示 DTNBP1 蛋白) and blos1 (显示 BLOC1S1 蛋白).
PLDN is a direct target of RUNX1 (显示 RUNX1 蛋白) and its dysregulation is a mechanism for platelet dense granule deficiency associated with RUNX1 (显示 RUNX1 蛋白) haplodeficiency
Mecp2 regulates the expression of components belonging to the dysbindin (显示 DTNBP1 蛋白) interactome
no defects in the known components of pallidin-muted complex (BLOC-1)have been identif (显示 MUTED 蛋白)ied in 142 patie (显示 BLOC1S1 蛋白)nts with HPS, suggesting that BLOC-1 function may be critical in humans.
Polycystin-2 (显示 PKD2 蛋白) requires IFT20 (显示 IFT20 蛋白)-GMAP210, the exocyst, and BLOC-1 for trafficking from endosomes to primary cilia.
We found 491 proteins sensitive to dysbindin (显示 DTNBP1 蛋白) and BLOC-1 loss of function
VAMP7 mediates fusion of BLOC-1-dependent transport carriers with melanosomes, illuminate SNARE recycling from melanosomes as a critical BLOC-3-dependent step.
Data suggest functional links between OCA2 and the BLOC-1, BLOC-2, and AP-3 protein complexes involved in melanosome biogenesis.
The identification of the feeble mutation led to our subsequent observations that AP-3 (显示 AP3B1 蛋白), as well as the BLOC-1 and BLOC-2 (显示 HPS6 蛋白) are essential for plasmacytoid dendritic cells signaling through TLR7 (显示 TLR7 蛋白) and TLR9 (显示 TLR9 蛋白).
This study demonstrated that Loss-of-function alleles of BLOC-1, Pldn(pa/pa), and Muted (显示 MUTED 蛋白)(mu/mu) revealed that this complex acts as a brain-region-specific regulator of AP-3 (显示 AP3B1 蛋白).
pallidin may play a role in membrane fusion events required for melanosome biogenesis
BLOC-1, a novel complex containing this and muted (显示 MUTED 蛋白) proteins involved in the biogenesis of melanosomes and platelet-dense granules
a Cappuccino frameshift mutation abolishes its ability to interact with pallidin-muted (显示 MUTED 蛋白) complex (BLOC-1)in mice
The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.
, BLOC-1 subunit 6
, biogenesis of lysosomal organelles complex-1, subunit 5, pallidin
, biogenesis of lysosome-related organelles complex 1 subunit 6
, pallid protein homolog
, syntaxin 13 binding protein 1
, syntaxin 13-interacting protein pallid
, pallidin homolog
, pallid protein
, syntaxin 13-interacting protein pallidin