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Gene : BLOC1S3 Homo sapiens

Name  ? biogenesis of lysosomal organelles complex 1 subunit 3 Cytological Location  19q13.32
Brief Description  biogenesis of lysosomal organelles complex 1 subunit 3
Description  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, Jul 2008]
  • synonyms:
  • BLOS3,
  • Hermansky-Pudlak syndrome 8,
  • HPS8,
  • RP,
  • NM_212550,
  • AY531266,
  • OTTHUMG00000181776,
  • Biogenesis of Lysosome-related Organelles complex-1 Subunit 3,
  • HPS8,
  • HGNC:20914,
  • BLOS3,
  • BLOC1S3,
  • BLOC-1 subunit 3,
  • uc002pax.5
  • identifiers:
  • 388552,
  • ENSG00000189114,
  • BLOC1S3

Genome feature

Region: gene ? Length: 23932  
Location: 19:45178784-45202715 Cyto location: 19q13.32


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

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Other

3756 SN Ps

5 Cross References

17 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results