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Protein found in humans
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 .[ 5]
This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes , platelet dense granules, and lysosomes .[ 6] HPS3 and HPS5 form a stable protein complex named Biogenesis of Lysosome-related Organelles Complex-2 (BLOC-2).[ 7]
Clinical significance [ edit ] Mutations in this gene are associated with Hermansky–Pudlak syndrome type 6 characterized by albinism and prolonged bleeding.[ 5] [ 8]
^ a b c GRCh38: Ensembl release 89: ENSG00000166189 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000074811 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ a b 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 . S2CID 23938527 . ^ "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 . S2CID 20584286 . ^ 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 .
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