ACBD5 Back

acyl-Coenzyme A binding domain containing 5

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NCBI Description of ACBD5

This gene encodes a member of the acyl-Coenzyme A binding protein family, known to function in the transport and distribution of long chain acyl-Coenzyme A in cells. This gene may play a role in the differentiation of megakaryocytes and formation of platelets. A mutation in this gene has been associated with autosomal dominant thrombocytopenia. 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

ACBD5 is highly significantly mutated in
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ACBD5 is significantly mutated in
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ACBD5 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 ACBD5