HPS4
Description
The HPS4 gene provides instructions for making a protein called HPS4, a component of a protein complex crucial for lysosome function. Lysosomes are cellular compartments responsible for breaking down waste products and worn-out cellular components. Mutations in HPS4 can disrupt this process, leading to Hermansky-Pudlak Syndrome (HPS). This rare, autosomal recessive disorder affects various systems, including pigmentation, platelet function, and the immune system. HPS4 plays a broader role in cellular trafficking and organelle biogenesis, underscoring its importance in maintaining cellular homeostasis.
Associated Diseases
Did you know?
HPS4 mutations can lead to albinism, a condition characterized by a lack of melanin pigment in the skin, hair, and eyes.
