PLEKHM1 Back

pleckstrin homology domain containing, family M (with RUN domain) member 1

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NCBI Description of PLEKHM1
The protein encoded by this gene is essential for bone resorption, and may play a critical role in vesicular transport in the osteoclast. Mutations in this gene are associated with autosomal recessive osteopetrosis type 6 (OPTB6). Alternatively spliced transcript variants have been found for this gene.

Community Annotation of PLEKHM1 Add / Edit PLEKHM1: 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

PLEKHM1 is highly significantly mutated in
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PLEKHM1 is significantly mutated in
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PLEKHM1 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 PLEKHM1