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BLOC1S3

MIM.609762 19q13

Tuesday 8 January 2008

BLOC1S3 is a component of the ubiquitously expressed BLOC1 multisubunit protein complex (biogenesis of lysosome-related organelles complex 1).

BLOC1 is required for normal biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules.

Pathology

- germline mutations of BLOC1S3 in Hermansky-Pudlak syndrome locus 8 (HPS8).

NB: Mutations in other BLOC-1 subunits have been associated with an HPS phenotype in humans and/or mouse.