HPS2 è un gene codificato dal simbolo AP3B1. Comunemente indicato anche come: 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 ha una massa di 121.32kDa, una lunghezza di amminoacidi di 1094, ed è implicato in Hermansky-Pudlak syndrome 2.
Offriamo 2 anticorpi contro HPS2, allevati nel Coniglio, che sono adatti per WB, IHC e ELISA con campioni derivati da Umano, Topo e Ratto.
Informazioni su geni e proteine
Riepilogo UniProt
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.
Sommario di Entrez
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.
Specificità del tessuto
Ubiquitously expressed.
Coinvolgimento nella malattia
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.
Somiglianze di sequenza
Belongs to the adaptor complexes large subunit family.
Modifica post-translazionale
Phosphorylated on serine residues.
Posizione cellulare
Cytoplasmic vesicle > Clathrin-coated vesicle membrane. Golgi apparatus.
Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex.
