HPS6
Description
The HPS6 gene, located on chromosome 10, provides instructions for making a protein called HPS6. This protein is crucial for the proper function of lysosomes, cellular organelles responsible for breaking down waste products and recycling materials. HPS6, along with other HPS proteins, plays a vital role in the biogenesis of lysosome-related organelles (LROs), which are essential for various cellular processes, including pigmentation, immunity, and neurotransmission. Mutations in the HPS6 gene can lead to a group of inherited disorders known as Hermansky-Pudlak Syndrome (HPS).
Associated Diseases
Did you know?
HPS6 gene mutations are associated with albinism, a condition characterized by a lack of melanin pigment, which gives color to skin, hair, and eyes.
