HPS4 Back

Hermansky-Pudlak syndrome 4

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NCBI Description of HPS4
This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicing results in multiple transcript variants.

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

HPS4 is highly significantly mutated in
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HPS4 is significantly mutated in
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HPS4 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for HPS4