HPS5
Description
The HPS5 gene encodes a protein crucial for the formation and function of lysosomes, cellular organelles responsible for degrading waste products. Mutations in the HPS5 gene can lead to Hermansky-Pudlak syndrome (HPS), a rare genetic disorder characterized by albinism, platelet dysfunction, and other complications. HPS5 protein interacts with other proteins involved in lysosome biogenesis, ensuring the proper trafficking and assembly of lysosomal components. Understanding the role of HPS5 is essential for developing therapeutic strategies for HPS and other lysosomal storage disorders.
Associated Diseases
Did you know?
HPS5 protein is highly conserved across species, suggesting its critical role in fundamental cellular processes.
