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dystrobrevin binding protein 1

This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles complex 1 (BLOC-1), and binds to alpha- and beta-dystrobrevins, which are components of the dystrophin-associated protein complex (DPC). Mutations in this gene are associated with Hermansky-Pudlak syndrome type 7. This gene may also be associated with schizophrenia. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq]

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Data Correlations | 993 studies

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Tissues category icon Normal tissues
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Putamen 100 100
Nucleus accumbens 93 93
Vestibular nuclear c… 91 91
Great saphenous vein 87 87
Substantia nigra 85 85
Cecum 85 85
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Compounds category icon Compounds
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Sc 514 100 100
Grenz Rays 72 72
Sandoglobulin 67 67
Lysophosphatidic Aci… 62 62
Electric Fields 60 60
Mil 60 60
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Diseases category icon Diseases
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Alpha storage pool d… 100 100
Simple schizophrenia 99 99
Effects of heat 71 71
Hypoxia 56 56
Corneal burn 52 52
Multiple myeloma 47 47
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Individual Studies

  • Effect of high fat and low fat diet on liver expression

    score: 100100 | Mus musculus Mus musculus | RNA Expression   RNA Expression

    Timecourse analysis of the effect high fat and low fat diets have on liver gene expression

    Authors: Alevizos Ilias, Misra Jatin, Stephanopoulos Greg

    Organization: MIT Cambridge 02139 Country USA

  • Mouse Phenotypes - Inherited platelet disorder

    score: 100100 | Mus musculus Mus musculus | Mutations/Phenotypic   Mutations/Phenotypic

    This study contains curated mouse gene mutation data extracted from the Mouse Genome Database (MGD) at The Jackson Laboratory, Bar Harbor, Maine. Additional computational processing and curation of mouse phenotype data was performed to further organize and group data from related phenotypes into uni…

    Source: NextBio Library/Mutation and Phenotypic data
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Associated Researchers

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Thought leaders and organizations working on research involving DTNBP1.

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  • Derek J Blake
  • Raju Kucherlapati
  • Ryota Hashimoto
  • Anil K Malhotra
  • Jung-Jin Kim
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  • Yale University
  • National Taiwan University Hospital
View All Affiliations icon Organizations
  • Virginia Commonwealth University
  • Cardiff University
  • RWTH Aachen University
  • Catholic University of Korea College of Medicine
  • University of Pennsylvania

Clinical Trials | 2 trials

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