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[edit]
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[edit]
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[edit]
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[edit]
References[edit]
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