BLOC1S5

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Description

The BLOC1S5 gene encodes a protein that is part of the biogenesis of lysosomal organelles complex 1 (BLOC-1). BLOC-1 is a protein complex essential for the proper trafficking and sorting of proteins within the lysosome, a cellular organelle responsible for breaking down waste materials. Mutations in BLOC1S5 can disrupt BLOC-1 function, leading to defects in lysosomal trafficking and immune system dysfunction. These defects can manifest as a range of inherited disorders.

Associated Diseases

• Chediak-Higashi syndrome (CHS)
• Griscelli syndrome type 2 (GS2)
• Hermansky-Pudlak syndrome type 2 (HPS2)

Did you know?

Mutations in BLOC1S5 can lead to albinism, a condition characterized by a lack of melanin pigment in the skin, hair, and eyes.