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AP3B1
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. [provided by RefSeq, Nov 2012]
Protein class
Disease related genes, Human disease related genes, Plasma proteins
Predicted location
Intracellular
Single cell type specificity
Cell type enhanced (Oligodendrocytes)
Immune cell specificity
Low immune cell specificity
Cell line specificity
Low cell line specificity
Interaction
Adaptor protein complex 3 (AP-3) is a heterotetramer composed of two large adaptins (delta-type subunit AP3D1 and beta-type subunit AP3B1 or AP3B2), a medium adaptin (mu-type subunit AP3M1 or AP3M2) and a small adaptin (sigma-type subunit APS1 or AP3S2) (Probable). AP-3 associates with the BLOC-1 complex (By similarity). Interacts with KIF3A; interaction is direct; interaction is impaired by pyrophosphorylation of AP3B1 (PubMed:19934039).
More Types Infomation
- Mouse Anti-AP3B1 Recombinant Antibody (clone 3B4) (MOB-0929CT)
-
- Species Reactivity: Human
- Type: Mouse IgG2a
- Application: ELISA, WB
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For Research Use Only. Not For Clinical Use.