Hermansky-Pudlak syndrome 1 protein (HPS1, HPS)

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Function

  • component of multiple cytoplasmic organelles; essential for their normal development & function
  • may be involved in intracellular protein sorting

Alternative splicing

named isoforms=4

Expression

ubiquitous

Pathology

More general terms

More specific terms

References

  1. UniProt http://www.uniprot.org/uniprot/Q92902.html
  2. Mutations of the HPS gene; Retina International's scientific newsletter http://www.retina-international.com/sci-news/hpsmut.htm
  3. Albinism database (ADB); Note: HPS1 mutations http://albinismdb.med.umn.edu/hps1mut.html
  4. GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/HPS1
  5. Oh J et al. Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. Nat Genet. 1996 Nov;14(3):300-6. PMID: https://www.ncbi.nlm.nih.gov/pubmed/8896559

Database