Vps33B Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
| Gene Symbol | VPS33B |
| Gene Name | VPS33B |
| Chromosome | chromosome |
| NCBI Gene ID | 124976 |
| OMIM | 613300 |
| Ensembl ID | ENSG00000018408 |
| UniProt | Q9H8M7 |
| Associated Diseases | Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome (ARC) |
VPS33B is involved in vesicle trafficking and is essential for lysosomal function. Mutations cause a multisystem disorder with neurological involvement.
The VPS33B gene encodes VPS33B, a protein involved in neuronal function and survival. This gene product plays important roles in the nervous system and has been implicated in various neurodegenerative and neurodevelopmental disorders.
['Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome (ARC)'] are associated with mutations in VPS33B. Further research is ongoing to understand the precise molecular mechanisms linking VPS33B to these conditions.
VPS33B is expressed in various brain regions, with particularly high expression in areas relevant to motor control, cognition, and sensory processing. Expression patterns may vary during development and in disease states.
This page was created as part of the NeuroWiki gene page creation effort.
The study of Vps33B Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.