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 Vein Disease and Taylor's Syndrome. Gene Ontology (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 (PubMed:15102850, PubMed:17182842). 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 (By similarity). As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor (PubMed:25898167). May play a role in cell proliferation (PubMed:15381421).