HPS1 : HPS1 biogenesis of lysosomal organelles complex 3 subunit 1

Description

The HPS1 gene encodes a protein crucial for the formation and function of lysosomes, cellular organelles responsible for breaking down waste products and recycling materials. HPS1 mutations lead to Hermansky-Pudlak Syndrome (HPS), a group of genetic disorders characterized by albinism, platelet dysfunction, and other complications. HPS1 protein interacts with other proteins involved in lysosome biogenesis, forming a complex that facilitates the delivery of lysosomal enzymes to their destination. The gene‘s role in maintaining lysosome integrity is vital for normal cellular function and overall health.

Associated Diseases

• Hermansky-Pudlak Syndrome (HPS)
• Albinism
• Platelet Dysfunction
• Lung Disease
• Gastrointestinal Issues
• Neurological Abnormalities

Did you know?

Mutations in the HPS1 gene can result in different types of Hermansky-Pudlak Syndrome, each with its own unique set of symptoms.