BLOC1S6

Description

The BLOC1S6 gene encodes a protein crucial for the proper functioning of the biogenesis of lysosomal organelles complex 1 (BLOC-1). BLOC-1 is a multi-protein complex involved in the trafficking and sorting of proteins to lysosomes, cellular organelles responsible for breaking down waste materials. Mutations in the BLOC1S6 gene can disrupt the assembly and function of BLOC-1, leading to a range of cellular and developmental defects.

Associated Diseases

• Albinism-ocular albinism, type 1 (OA1)
• Griscelli syndrome type 2 (GS2)
• Chediak-Higashi syndrome (CHS)

Did you know?

Mutations in BLOC1S6 can lead to a condition called albinism, where individuals lack melanin pigment in their skin, hair, and eyes.