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Heřmanský–Pudlák syndrome is an extremely rare autosomal recessive disorder which results in oculocutaneous albinism, bleeding problems due to a platelet abnormality, and storage of an abnormal fat-protein compound. It is considered to affect around 1 in 500,000 people worldwide, with a significantly higher occurrence in Puerto Ricans, with a prevalence of 1 in 1800. Many of the clinical research studies on the disease have been conducted in Puerto Rico.
Vesicular transport adaptor proteins are proteins involved in forming complexes that function in the trafficking of molecules from one subcellular location to another. These complexes concentrate the correct cargo molecules in vesicles that bud or extrude off of one organelle and travel to another location, where the cargo is delivered. While some of the details of how these adaptor proteins achieve their trafficking specificity has been worked out, there is still much to be learned.
Dysbindin, short for dystrobrevin-binding protein 1, is a protein constituent of the dystrophin-associated protein complex (DPC) of skeletal muscle cells. It is also a part of BLOC-1, or biogenesis of lysosome-related organelles complex 1. Dysbindin was discovered by the research group of Derek Blake via yeast two-hybrid screening for binding partners of α-dystrobrevin. In addition, dysbindin is found in neural tissue of the brain, particularly in axon bundles and especially in certain axon terminals, notably mossy fiber synaptic terminals in the cerebellum and hippocampus. In humans, dysbindin is encoded by the DTNBP1 gene.
BLOC-1 or biogenesis of lysosome-related organelles complex 1 is a ubiquitously expressed multisubunit protein complex in a group of complexes that also includes BLOC-2 and BLOC-3. BLOC-1 is required for normal biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules. These organelles are called LROs which are apparent in specific cell-types, such as melanocytes. The importance of BLOC-1 in membrane trafficking appears to extend beyond such LROs, as it has demonstrated roles in normal protein-sorting, normal membrane biogenesis, as well as vesicular trafficking. Thus, BLOC-1 is multi-purposed, with adaptable function depending on both organism and cell-type.
AP-3 complex subunit beta-1 is a protein that in humans is encoded by the AP3B1 gene.
Ras-related protein Rab-9A is a protein that in humans is encoded by the RAB9A gene.
SNARE-associated protein Snapin is a protein that in humans is encoded by the SNAPIN gene.
Pallidin is a protein that in humans is encoded by the PLDN gene.
Hermansky–Pudlak syndrome 1 protein is a protein that in humans is encoded by the HPS1 gene.
AP-3 complex subunit mu-1 is a protein that in humans is encoded by the AP3M1 gene.
Hermansky–Pudlak syndrome 4 protein is a protein that in humans is encoded by the HPS4 gene.
AP-3 complex subunit sigma-2 is a protein that in humans is encoded by the AP3S2 gene.
Hermansky–Pudlak syndrome 3 protein is a protein that in humans is encoded by the HPS3 gene.
Hermansky–Pudlak syndrome 5 protein is a protein that in humans is encoded by the HPS5 gene.
Biogenesis of lysosome-related organelles complex 1 subunit 2 is a protein that in humans is encoded by the BLOC1S2 gene.
Biogenesis of lysosome-related organelles complex 1 subunit 1 is a protein that in humans is encoded by the BLOC1S1 gene.
Protein Muted homolog is a protein that in humans is encoded by the MUTED gene.
Ras-related protein Rab-27A is a protein that in humans is encoded by the RAB27A gene.
Protein cappuccino homolog is a protein that in humans is encoded by the CNO gene.
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.
References
- ↑ Chiang PW, Oiso N, Gautam R, Suzuki T, Swank RT, Spritz RA (May 2003). "The Hermansky-Pudlak syndrome 1 (HPS1) and HPS4 proteins are components of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles". J. Biol. Chem. 278 (22): 20332–20337. doi: 10.1074/jbc.m300090200 . PMID 12663659.
- ↑ Martina JA, Moriyama K, Bonifacino JS (August 2003). "BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4". J. Biol. Chem. 278 (31): 29376–29384. doi: 10.1074/jbc.m301294200 . PMID 12756248.
- ↑ Nazarian R, Falcón-Pérez JM, Dell'Angelica EC (July 2003). "Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4". Proc. Natl. Acad. Sci. USA. 100 (15): 8770–8775. Bibcode:2003PNAS..100.8770N. doi: 10.1073/pnas.1532040100 . PMC 166388 . PMID 12847290.
- ↑ Kloer DP, Rojas R, Ivan V, Moriyama K, van Vlijmen T, Murthy N, Ghirlando R, van der Sluijs P, Hurley JH, Bonifacino JS (March 2010). "Assembly of the biogenesis of lysosome-related organelles complex-3 (BLOC-3) and its interaction with Rab9". J. Biol. Chem. 285 (10): 7794–7804. doi: 10.1074/jbc.M109.069088 . PMC 2844223 . PMID 20048159.
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