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biogenesis of lysosomal organelles complex-1, subunit 3

This gene encodes a protein that is a component of the BLOC1 multi-subunit protein complex. This complex is necessary for the biogenesis of specialized organelles of the endosomal-lysosomal system, including platelet dense granules and melanosomes. Mutations in this gene cause Hermansky-Pudlak syndrome 8, a disease characterized by lysosomal storage defects, bleeding due to platelet storage pool deficiency, and oculocutaneous albinism. [provided by RefSeq]

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Data Correlations | 577 studies

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Tissues category icon Normal tissues
Score Help
Vulva 100 100
Femur 98 98
Epidermis 95 95
Ganglion of cranial … 93 93
Preoptic area 92 92
Hemisphere of cerebe… 92 92
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Compounds category icon Compounds
Score Help
Desoxycholic Acid 100 100
Antigens 75 75
Sevoflurane 73 73
Cyanopindolol 68 68
Fullerenol 68 68
Tert-butylhydroquino… 68 68
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Diseases category icon Diseases
Score Help
Alpha storage pool d… 100 100
Facioscapulohumeral … 60 60
Grade 1 chronic reje… 54 54
N2 52 52
Gingival fibromatosi… 46 46
Rhinovirus infection 45 45
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Individual Studies

  • 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

  • OMIM - Congenital disorder

    score: 100100 | Homo sapiens Homo sapiens | Mutations/Phenotypic   Mutations/Phenotypic

    This study contains curated human phenotype data extracted from OMIM. Additional computational processing and curation of the phenotype data was performed to further organize and group data from related phenotypes into unifying disease categories.

    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 BLOC1S3.

View All Author iconAuthors
  • Marta Starcevic
  • Esteban C Dell'Angelica
  • John R Ainsworth
  • Robin A J Eady
  • Steven B Auerbach
View All Affiliations icon Organizations
  • University of Birmingham
  • University of California
  • Trinity College
  • University of California, Los Angeles
  • Institute of Genetics and Molecular Medicine

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