HPS7

HPS7 is a gene that in humans is encoded by the HPS7 protein. This gene is associated with Hermansky-Pudlak syndrome, a disorder characterized by oculocutaneous albinism and bleeding diathesis. The encoded protein is involved in the biogenesis of lysosome-related organelles, such as melanosomes and platelet-dense granules.

Function

The HPS7 gene provides instructions for making a protein that is involved in the formation of certain types of lysosomes. Lysosomes are compartments within cells that use enzymes to break down large molecules, such as proteins, fats, and carbohydrates. The HPS7 protein is found in the melanocytes, which are cells that produce and store the pigment melanin.

Clinical significance

Mutations in the HPS7 gene cause Hermansky-Pudlak syndrome type 7. This is a disorder characterized by oculocutaneous albinism, bleeding problems due to a platelet abnormality (platelet storage pool defect), and lysosomal accumulation of ceroid lipofuscin.

See also

• Hermansky-Pudlak syndrome
• Melanocyte
• Lysosome

External links

• NCBI Gene
• Genetics Home Reference

HPS7 Resources
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