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AP3B1 encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Zusätzlich bieten wir Ihnen AP3B1 Antikörper (43) und AP3B1 Proteine (3) und viele weitere Produktgruppen zu diesem Protein an.
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point mutation c.2702C>G in exon 23 of the AP3B1 gene caused deletion of 112 bp in the mRNA in two siblings. This mutation activates a cryptic donor splice site that overrules the wild-type donor splice site of this exon. Three other novel mutations in AP3B1 were identified, that is, a nonsense mutation c.716G>A (p.Trp239Ter), a 1-bp and a 4-bp deletion c.177delA and c.1839_1842delTAGA, respectively
Synergistic defects of UNC13D and AP3B1 leading to adult hemophagocytic lymphohistiocytosis.
Using a co-affinity purification strategy, authors have identified the beta subunit (zeige POLG ELISA Kits) of the AP-3 adapter protein (zeige TOLLIP ELISA Kits) complex, AP3B1, as a binding partner for the M proteins of the zoonotic paramyxoviruses Nipah virus and Hendra virus.
Data indicate that RUN and FYVE domain protein Rabip4'(RUFY1) interacts specifically and directly with adaptor protein complex AP-3.
The study provides a description of two unrelated individuals with Hermansky Pudlak syndrome type 2 associated with novel mutations in AP3B1.
diphosphoinositol pentakisphosphate-mediated pyrophosphorylation of AP3B1 modulates the interaction with Kif3A and, as a consequence, affects the release of HIV-1 virus-like particles.
Two nonsense mutations in ADTB3A, C1578T (R-->X) and G2028T (E-->X), result in lack of ADTB3A mRNA and beta3A (zeige BHLHE22 ELISA Kits) protein production and a severe, G-CSF (zeige CSF3 ELISA Kits)-responsive neutropenia in addition to oculocutaneous albinism and platelet storage pool deficiency.
Description of mutations in HPS (zeige HPS1 ELISA Kits) genes that cause Hermansky-Pudlak syndrome (review)
We defined a homozygous genomic deletion in AP3B1, the gene encoding the beta chain of the adaptor protein-3 (AP-3) complex. The mutation leads to in-frame skipping of exon 15 and thus perturbs proper assembly of the heterotetrameric AP-3 complex.
A novel homozygous mutation in AP3B1 was detected in a 2-year-old patient with oculocutaneous albinism and immunodeficiency with Hermansky-Pudlak syndrome type II and eventual acute fatal hemophagocytic lymphohistiocytosis.
HIV-2 particle release was dependent on the adaptor protein complex AP-3 and the newly identified AP-5 complex, but much less so on AP-1 (zeige JUN ELISA Kits).
Data show that cytokine activation as a result of toll-like receptor 2 (TLR2) stimulation occurs at different intracellular locations and is mediated by the phagosomal trafficking molecule adaptor protein-3 (AP-3).
Our study indicates that Ap3b1 gene play distinct roles in melanin production and tyrosinase (zeige TYR ELISA Kits) distribution compared with Hps1 gene.
we show that loss of the related adaptor protein AP-1 has a similar effect on regulated secretion but exacerbates the effect of AP-3 RNAi, suggesting distinct roles for the two adaptors in the regulated secretory pathway.
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, as well as the BLOC-1 and BLOC-2 (zeige HPS6 ELISA Kits) are essential for plasmacytoid dendritic cells signaling through TLR7 (zeige TLR7 ELISA Kits) and TLR9 (zeige TLR9 ELISA Kits).
TLR9 (zeige TLR9 ELISA Kits) signals leading to activation of IFN I, require TLR9 (zeige TLR9 ELISA Kits) trafficking from endosomes to lysosome-related organelle; adapter protein (zeige GRB10 ELISA Kits)-3 (zeige HSPB3 ELISA Kits) identified as protein complex responsible for trafficking of TLR9 (zeige TLR9 ELISA Kits) to this subcellular compartment
AP-3 mediates the intracellular trafficking of CD1d (zeige CD1D ELISA Kits) to lysosomes for sampling of lipid antigens (Ags (zeige GLA ELISA Kits)) involved in self-Ag presentation and thymocyte-positive selection.
AP-3 requirement is a particular attribute of the CD1d (zeige CD1D ELISA Kits) pathway in mice and that, although MHC class II molecules and CD1d (zeige CD1D ELISA Kits) are both found in late endosomes or lysosomes, different pathways mediate their intracellular trafficking
AP-3B plays a critical role in the normal formation and function of a subset of synaptic vesicles
This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. Two transcript variants encoding different isoforms have been found for this gene.
adaptor-related protein complex 3, beta 1 subunit
, AP-3 complex subunit beta-1
, adaptor-related protein complex 3, beta-1 subunit
, AP-3 complex subunit beta-1-like
, AP-3 complex beta-3A subunit
, adaptor protein complex AP-3 subunit beta-1
, clathrin assembly protein complex 3 beta-1 large chain
, adapter-related protein complex 3 subunit beta-1
, adaptor protein complex AP-3 beta-1 subunit
, adaptor-related protein complex AP-3, beta 1 subunit
, recombination induced mutation 2
, adaptor-related protein complex AP3 beta 1 subunit