Aliases for BLOC1S2 Gene
External Ids for BLOC1S2 Gene
Previous GeneCards Identifiers for BLOC1S2 Gene
This gene encodes a protein with multiple functions. The encoded protein has been found in association with the centrosome, shown to co-localize with gamma-tubulin, and also found to be one of the proteins in the BLOC-1 complex which functions in the formation of lysosome-related organelles. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]
GeneCards Summary for BLOC1S2 Gene
BLOC1S2 (Biogenesis Of Lysosomal Organelles Complex-1, Subunit 2) is a Protein Coding gene. Diseases associated with BLOC1S2 include hermansky-pudlak syndrome. GO annotations related to this gene include protein C-terminus binding and gamma-tubulin binding.
UniProtKB/Swiss-Prot for BLOC1S2 Gene
Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. Plays a role in intracellular vesicle trafficking. May play a role in cell proliferation.