AP4B1 Back

adaptor-related protein complex 4, beta 1 subunit

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NCBI Description of AP4B1
This gene encodes a subunit of a heterotetrameric adapter-like complex 4 that is involved in targeting proteins from the trans-Golgi network to the endosomal-lysosomal system. Mutations in this gene are associated with cerebral palsy spastic quadriplegic type 5 (CPSQ5) disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Community Annotation of AP4B1 Add / Edit AP4B1: Annotations

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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

AP4B1 is highly significantly mutated in
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AP4B1 is significantly mutated in
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AP4B1 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 AP4B1