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Gene : BLOC1S6 Homo sapiens

Name  ? biogenesis of lysosomal organelles complex 1 subunit 6 Cytological Location  15q21.1
Brief Description  biogenesis of lysosomal organelles complex 1 subunit 6
Description  The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Mutations in this gene cause symptoms associated with Hermansky-Pudlak syndrome-9. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the X chromosome. [provided by RefSeq, Aug 2015]
  • synonyms:
  • PLDN,
  • PLDN,
  • BLOC1S6,
  • pallid (mouse) homolog, pallidin,
  • HPS9,
  • PA,
  • NM_012388,
  • PA,
  • BLOC-1 subunit pallidin,
  • PALLID,
  • BLOS6,
  • uc001zvq.4,
  • HGNC:8549,
  • AF080470,
  • HPS9,
  • OTTHUMG00000131477,
  • pallidin homolog (mouse)
  • identifiers:
  • 26258,
  • ENSG00000104164,
  • BLOC1S6

Genome feature

Region: gene ? Length: 22594  
Location: 15:45587123-45609716 Cyto location: 15q21.1


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Function

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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)

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Other

141 SN Ps

5 Cross References

17 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results