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Dystrobrevin Binding Protein 1 (DTNBP1) (N-Term) antibody

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Synonyms SDY, CG6856, Ddysb, Dmel\\CG6856, dtnbp1, zgc:56462, MGC83903, sdy, dbnd, hps7, my031, MGC85477, DTNBP1, BLOC1S8, DBND, HPS7, My031, 5430437B18Rik, AW048963, Bloc1s8, dysbindin
(36), (21), (16), (3), (2), (2), (2), (2), (2), (1), (1), (1), (1), (1), (1), (1)
Human, Mouse (Murine)
(97), (31), (22), (13), (1)
(107), (5)
(8), (8), (8), (6), (6), (6), (2), (2), (2), (2), (2), (2), (2), (2), (2)
Immunohistochemistry (IHC)
(82), (52), (39), (22), (14), (7), (3), (3), (2), (1), (1), (1)
Pubmed 10 references available
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Quantity 0.1 mg
Shipping to United States ( )
Availability Will be delivered in 5 to 7 Business Days
Immunogen Polyclonal antibody produced in rabbits immunizing with a synthetic peptide corresponding to N-terminal residues of human DTNBP1(Dystrobrevin binding protein 1)
Purification Purified by antigen-specific affinity chromatography.
Alternative Name DTNBP1(Dystrobrevin binding protein 1) (DTNBP1 Antibody Abstract)
Background 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.
Application Notes ELISA, Western blotting: 1µg/ml for 2hrs.
Restrictions For Research Use only
Format Liquid
Buffer This antibody is stored in PBS, 50% glycerol
Preservative Sodium azide
Precaution of Use This product contains sodium azide: a POISONOUS AND HAZARDOUS SUBSTANCE which should be handled by trained staff only.
Storage -20 °C
Background publications Nazarian, Starcevic, Spencer et al.: "Reinvestigation of the dysbindin subunit of BLOC-1 (biogenesis of lysosome-related organelles complex-1) as a dystrobrevin-binding protein." in: The Biochemical journal, Vol. 395, Issue 3, pp. 587-98, 2006 (PubMed).

Gornick, Addington, Sporn et al.: "Dysbindin (DTNBP1, 6p22.3) is associated with childhood-onset psychosis and endophenotypes measured by the Premorbid Adjustment Scale (PAS)." in: Journal of autism and developmental disorders, Vol. 35, Issue 6, pp. 831-8, 2006 (PubMed).

Li, Zhang, Liu et al.: "Identifying potential risk haplotypes for schizophrenia at the DTNBP1 locus in Han Chinese and Scottish populations." in: Molecular psychiatry, Vol. 10, Issue 11, pp. 1037-44, 2005 (PubMed).

Bray, Preece, Williams et al.: "Haplotypes at the dystrobrevin binding protein 1 (DTNBP1) gene locus mediate risk for schizophrenia through reduced DTNBP1 expression." in: Human molecular genetics, Vol. 14, Issue 14, pp. 1947-54, 2005 (PubMed).

Funke, Finn, Plocik et al.: "Association of the DTNBP1 locus with schizophrenia in a U.S. population." in: American journal of human genetics, Vol. 75, Issue 5, pp. 891-8, 2004 (PubMed).

Numakawa, Yagasaki, Ishimoto et al.: "Evidence of novel neuronal functions of dysbindin, a susceptibility gene for schizophrenia." in: Human molecular genetics, Vol. 13, Issue 21, pp. 2699-708, 2004 (PubMed).

Hall, Gogos, Karayiorgou: "The contribution of three strong candidate schizophrenia susceptibility genes in demographically distinct populations." in: Genes, brain, and behavior, Vol. 3, Issue 4, pp. 240-8, 2004 (PubMed).

Kohn, Danilovich, Filon et al.: "Linkage disequlibrium in the DTNBP1 (dysbindin) gene region and on chromosome 1p36 among psychotic patients from a genetic isolate in Israel: findings from identity by descent haplotype sharing ..." in: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, Vol. 128B, Issue 1, pp. 65-70, 2004 (PubMed).

Kirov, Ivanov, Williams et al.: "Strong evidence for association between the dystrobrevin binding protein 1 gene (DTNBP1) and schizophrenia in 488 parent-offspring trios from Bulgaria." in: Biological psychiatry, Vol. 55, Issue 10, pp. 971-5, 2004 (PubMed).

Starcevic, DellAngelica: "Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1)." in: The Journal of biological chemistry, Vol. 279, Issue 27, pp. 28393-401, 2004 (PubMed).

Catalog No. ABIN966013
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