HPS2 ist ein Gen, das durch das Symbol AP3B1 kodiert wird. Im Allgemeinen auch bezeichnet als: AP-3 complex subunit beta-1; Adaptor protein complex AP-3 subunit beta-1; Adaptor-related protein complex 3 subunit beta-1; Beta-3A-adaptin; Clathrin assembly protein complex 3 beta-1 large chain; AP3B1; ADTB3A. HPS2 hat eine Masse von 121.32kDa, eine Aminosäurelänge von 1094, und ist an Hermansky-Pudlak syndrome 2 beteiligt.
Wir bieten 2 antikörper gegen HPS2, aufgewachsen in Kaninchen, welche geeignet sind für WB, IHC and ELISA mit Proben abgeleitet von Human, Maus und Ratte.
Gen- und Proteininformationen
UniProt Zusammenfassung
Subunit of non-clathrin- and clathrin-associated adaptor protein complex 3 (AP-3) that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. AP-3 appears to be involved in the sorting of a subset of transmembrane proteins targeted to lysosomes and lysosome-related organelles. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals.
Entrez Zusammenfassung
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.
Gewebespezifität
Ubiquitously expressed.
Rolle bei Krankheiten
Hermansky-Pudlak syndrome 2: A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. HPS2 differs from the other forms of HPS in that it includes immunodeficiency in its phenotype and patients with HPS2 have an increased susceptibility to infections.
Sequenzähnlichkeiten
Belongs to the adaptor complexes large subunit family.
Posttranslationale Modifikation
Phosphorylated on serine residues.
Zellort
Cytoplasmic vesicle > Clathrin-coated vesicle membrane. Golgi apparatus.
Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex.
