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
Pathology
- frameshift mutations in HPS1 are the cause of Hermansky-Pudlak syndrome type 1
More general terms
More specific terms
- Hermansky-Pudlak syndrome 7 protein (dystrobrevin binding protein 1, dysbindin, My031 protein, DTNBP1)
- Hermansky-Pudlak syndrome 3 protein (HPS3)
- Hermansky-Pudlak syndrome 5 protein (alpha-integrin-binding protein 63, Ruby-eye protein 2 homolog, Ru2, HPS5, AIBP63, KIAA1017)
- Hermansky-Pudlak syndrome 6 protein; Ruby-eye protein homolog; Ru (HPS6)
References
- ↑ UniProt http://www.uniprot.org/uniprot/Q92902.html
- ↑ Mutations of the HPS gene; Retina International's scientific newsletter http://www.retina-international.com/sci-news/hpsmut.htm
- ↑ Albinism database (ADB); Note: HPS1 mutations http://albinismdb.med.umn.edu/hps1mut.html
- ↑ GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/HPS1
- ↑ 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