BLOC1S2 Antibody – Rabbit Polyclonal

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]

BLOC1S2: May play a role in cell proliferation. The BLOC-1 complex is required for normal biogenesis of lysosome-related organelles, such as platelet dense granules and melanosomes. Plays a role in intracellular vesicle trafficking. Belongs to the BLOC1S2 family. 2 isoforms of the human protein are produced by alternative splicing.

Chromosomal Location of Human Ortholog: 10q24.31

Cellular Component: centrosome; recycling endosome; mitochondrion; nucleus; gamma-tubulin complex

Molecular Function: protein C-terminus binding; gamma-tubulin binding; protein binding

Biological Process: platelet dense granule organization and biogenesis; induction of apoptosis via death domain receptors; melanosome organization and biogenesis; positive regulation of transcription, DNA-dependent; positive regulation of cell proliferation; anterograde synaptic vesicle transport; positive regulation of transcription from RNA polymerase II promoter; microtubule nucleation; anterograde axon cargo transport; neurite development