Gene Symbol | BLOC1S2 |
Entrez Gene ID | 282991 |
Full Name | biogenesis of lysosomal organelles complex 1 subunit 2 |
Synonyms | BLOS2,BORCS2,CEAP,CEAP11 |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: |