This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles complex 1 (BLOC-1), and is a model for Hermansky-Pudlak syndrome. The encoded protein may play a role in intracellular vesicular trafficking. [provided by RefSeq, Jul 2008].
Hillier, Graves, Fulton, Fulton, Pepin, Minx, Wagner-McPherson, Layman, Wylie, Sekhon, Becker, Fewell, Delehaunty, Miner, Nash, Kremitzki, Oddy, Du, Sun, Bradshaw-Cordum, Ali, Carter, Cordes, Harris et al.: "Generation and annotation of the DNA sequences of human chromosomes 2 and 4. ..." in: Nature, Vol. 434, Issue 7034, pp. 724-31, (2005) (PubMed).