HPS1

HPS1 is a gene that encodes the Hermansky-Pudlak syndrome 1 protein in humans. This protein is involved in the biogenesis of lysosome-related organelles (LROs), such as melanosomes and platelet dense granules. Mutations in this gene are associated with Hermansky-Pudlak syndrome, a rare autosomal recessive disorder characterized by oculocutaneous albinism, bleeding disorders, and pulmonary fibrosis.

Function

The HPS1 protein is a component of the biogenesis of lysosome-related organelles complex 3 (BLOC-3), which is required for the formation and function of LROs. BLOC-3 is involved in the trafficking of proteins to LROs, including melanosomes and platelet dense granules. The HPS1 protein interacts with another protein, HPS4, to form BLOC-3.

Clinical significance

Mutations in the HPS1 gene cause Hermansky-Pudlak syndrome type 1. This is the most common type of Hermansky-Pudlak syndrome, especially in people of Puerto Rican descent. Symptoms of the syndrome include oculocutaneous albinism, bleeding disorders due to a lack of platelet dense granules, and pulmonary fibrosis.

Genetics

The HPS1 gene is located on the short (p) arm of chromosome 10 at position 15.2, from base pair 17,768,840 to base pair 17,810,507. It contains 20 exons.

See also

• Hermansky-Pudlak syndrome
• Lysosome-related organelles
• Melanosome
• Platelet dense granules

References

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