HPS3 : HPS3 biogenesis of lysosomal organelles complex 2 subunit 1

Description

The HPS3 gene, located on chromosome 11, provides instructions for making a protein known as Hermansky-Pudlak syndrome protein 3. This protein is a key component of a complex involved in the biogenesis of lysosomes, essential cellular organelles responsible for breaking down waste materials. HPS3 works in conjunction with other proteins to facilitate the transport and sorting of lysosomal enzymes and membrane proteins to their proper destination within the cell. Dysfunctional HPS3 protein leads to the accumulation of these essential components in the Golgi apparatus, disrupting lysosome formation and function.

Associated Diseases

• Hermansky-Pudlak Syndrome (HPS) types 1, 2, and 3
• Albinism (oculocutaneous albinism)
• Platelet dysfunction (bleeding disorder)
• Pulmonary fibrosis
• Ceroid lipofuscinosis (neurodegenerative disorder)

Did you know?

Mutations in the HPS3 gene are responsible for about 10% of all Hermansky-Pudlak syndrome cases.