HPS6

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Hermansky-Pudlak syndrome 6
Identifiers
Symbols HPS6 ; RP11-302K17.1
External IDs OMIM607522 MGI2181763 HomoloGene11691 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:
103.83 – 103.83 Mb
Chr 19:
46 – 46.01 Mb
PubMed search [1] [2]

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[edit]

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[edit]

Mutations in this gene are associated with Hermansky-Pudlak syndrome type 6 characterized by albinism and prolonged bleeding.[1][4]

References[edit]

  1. ^ 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. 
  2. ^ "Entrez Gene: HPS6 Hermansky-Pudlak syndrome 6". 
  3. ^ 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. 
  4. ^ 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[edit]

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