| Tbio | Biogenesis of lysosome-related organelles complex 1 subunit 3 |
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.
This gene encodes a protein that is a component of the BLOC1 multi-subunit protein complex. This complex is necessary for the biogenesis of specialized organelles of the endosomal-lysosomal system, including platelet dense granules and melanosomes. Mutations in this gene cause Hermansky-Pudlak syndrome 8, a disease characterized by lysosomal storage defects, bleeding due to platelet storage pool deficiency, and oculocutaneous albinism. [provided by RefSeq, Jul 2008]
This gene encodes a protein that is a component of the BLOC1 multi-subunit protein complex. This complex is necessary for the biogenesis of specialized organelles of the endosomal-lysosomal system, including platelet dense granules and melanosomes. Mutations in this gene cause Hermansky-Pudlak syndrome 8, a disease characterized by lysosomal storage defects, bleeding due to platelet storage pool deficiency, and oculocutaneous albinism. [provided by RefSeq, Jul 2008]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Hermanski-Pudlak Syndrome | 8 | 0.0 | 0.0 |
| Polycystic ovary syndrome | 360 | 0.0 | 0.0 |
| Disease | Target Count |
|---|---|
| Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells | 7 |
| Schizophrenia | 1160 |
| Disease | Target Count | P-value |
|---|---|---|
| osteosarcoma | 7950 | 3.0e-05 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Hermansky-Pudlak syndrome | 42 | 5.453 | 2.7 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Oculocutaneous albinism | 29 | 4.5 | 2.3 |
| Platelet storage pool deficiency | 21 | 3.866 | 1.9 |
| Disease | Target Count |
|---|---|
| HERMANSKY-PUDLAK SYNDROME 8 | 1 |
| Hermansky-Pudlak Syndrome 1 | 6 |
