DNAH5 Back

dynein, axonemal, heavy chain 5

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NCBI Description of DNAH5
This gene encodes a dynein protein, which is part of a microtubule-associated motor protein complex consisting of heavy, light, and intermediate chains. This protein is an axonemal heavy chain dynein. It functions as a force-generating protein with ATPase activity, whereby the release of ADP is thought to produce the force-producing power stroke. Mutations in this gene cause primary ciliary dyskinesia type 3, as well as Kartagener syndrome, which are both diseases due to ciliary defects.

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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

DNAH5 is highly significantly mutated in
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DNAH5 is significantly mutated in
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DNAH5 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 DNAH5