DTNBP1(Dystrobrevin binding protein 1)plays a role in the biogenesis of lysosome-related organelles such as platelet dense granule and melanosomes. Dystrobrevin binding protein 1 binds to alpha and beta dystrobrevins that are components of the dystrophin-associated protein complex (DPC). It interacts with pallidin and MUTED. Dystrobrevin binding protein 1 is a part of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). Defects in DTNBP1 are the cause of Hermansky-Pudlak syndrome 7 (HPS7). Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous, rare, 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. Dystrobrevin binding protein 1 belongs to the dysbindin family.
Host
Rabbit
Immunogen
Polyclonal antibody produced in rabbits immunizing with a synthetic peptide corresponding to N-terminal residues of human DTNBP1(Dystrobrevin binding protein 1)
Isotype
IgG
Quantity
100 µg
Reactivity
Mouse, Human
Recombinant
FALSE
Regulatory
RUO
Shipping Condition
Ice Packs
Buffer
PBS, pH 7.4 with 0.05% sodium azide.
Concentration
1µg/ul
Format
Liquid
Purity
Purified by antigen-specific affinity chromatography.
Storage
This product is stable for several weeks at 4°C as an undiluted liquid. Dilute only prior to immediate use. For extended storage, aliquot contents and freeze at -20°C or below. Avoid cycles of freezing and thawing. Expiration date is one (1) year from date of receipt.
Storage Condition
-20C
Applications
WB, ELISA
Description
WB ; ELISA
Reviews of Anti-DTNBP1(Dystrobrevin binding protein 1)-(N-terminal) Antibody