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BLOC1S3 is a component of the ubiquitously expressed BLOC1 multisubunit protein complex.BLOC1 is required for normal biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules (15102850] [Full Text]" pmid="15102850"Starcevic and Dell'Angelica (2004) cloned BLOC1S3, which they called BLOS3.To provide access without cookies would require the site to create a new session for every page you visit, which slows the system down to an unacceptable level.This site stores nothing other than an automatically generated session ID in the cookie; no other information is captured.(2006) mapped Hermansky-Pudlak syndrome (HPS8; 614077) in a large consanguineous family to 19q13.
Sequencing of the single exon of the BLOC1S gene demonstrated a 1-bp frameshift deletion, 448del C (609762.0001).Starcevic and Dell'Angelica (2004) identified BLOS3 as a subunit of BLOC1.Other BLOC1 subunits identified were pallidin, muted (607289), dysbindin (DTNBP1; 607145), cappuccino (605695), snapin (SNAPAP; 607007), BLOC1S1 (601444), and BLOC1S2 (609768).The deduced BLOS3 protein has a calculated molecular mass of 21.3 k D.However, Western blot analysis detected endogenous He La cell BLOS3 at an apparent molecular mass of 32 k D.
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