HPS6
| Hermansky-Pudlak syndrome 6 | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||
| Symbols | HPS6 ; RP11-302K17.1 | ||||||||||||
| External IDs | OMIM: 607522 MGI: 2181763 HomoloGene: 11691 GeneCards: HPS6 Gene | ||||||||||||
| |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 79803 | 20170 | |||||||||||
| Ensembl | ENSG00000166189 | ENSMUSG00000074811 | |||||||||||
| UniProt | Q86YV9 | Q8BLY7 | |||||||||||
| RefSeq (mRNA) | NM_024747 | NM_176785 | |||||||||||
| RefSeq (protein) | NP_079023 | NP_789742 | |||||||||||
| Location (UCSC) |
Chr 10: 102.07 – 102.07 Mb |
Chr 19: 46 – 46.01 Mb | |||||||||||
| PubMed search | |||||||||||||
Hermansky-Pudlak syndrome 6 (HPS6) also known as ruby-eye protein homolog (Ru) is a protein that in humans is encoded by the HPS6 gene.[1]
Function
This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes.[2] HPS6 along with HPS3 and HPS5 form a stable protein complex named Biogenesis of Lysosome-related Organelles Complex-2 (BLOC-2).[3]
Clinical significance
Mutations in this gene are associated with Hermansky-Pudlak syndrome type 6 characterized by albinism and prolonged bleeding.[1][4]
References
- 1 2 Zhang Q, Zhao B, Li W, Oiso N, Novak EK, Rusiniak ME, Gautam R, Chintala S, O'Brien EP, Zhang Y, Roe BA, Elliott RW, Eicher EM, Liang P, Kratz C, Legius E, Spritz RA, O'Sullivan TN, Copeland NG, Jenkins NA, Swank RT (February 2003). "Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6". Nat. Genet. 33 (2): 145–53. doi:10.1038/ng1087. PMID 12548288.
- ↑ "Entrez Gene: HPS6 Hermansky-Pudlak syndrome 6".
- ↑ Di Pietro SM, Falcón-Pérez JM, Dell'Angelica EC (April 2004). "Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6". Traffic 5 (4): 276–83. doi:10.1111/j.1600-0854.2004.0171.x. PMID 15030569.
- ↑ Wei ML (February 2006). "Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function". Pigment Cell Res. 19 (1): 19–42. doi:10.1111/j.1600-0749.2005.00289.x. PMID 16420244.
Further reading
- Stelzl U, Worm U, Lalowski M, et al. (2005). "A human protein-protein interaction network: a resource for annotating the proteome.". Cell 122 (6): 957–68. doi:10.1016/j.cell.2005.08.029. PMID 16169070.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Huizing M, Pederson B, Hess RA, et al. (2009). "Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6". J. Med. Genet. 46 (12): 803–10. doi:10.1136/jmg.2008.065961. PMC 3500784. PMID 19843503.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Grupe A, Li Y, Rowland C, et al. (2006). "A Scan of Chromosome 10 Identifies a Novel Locus Showing Strong Association with Late-Onset Alzheimer Disease". Am. J. Hum. Genet. 78 (1): 78–88. doi:10.1086/498851. PMC 1380225. PMID 16385451.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
External links
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