TMLHE Back

trimethyllysine hydroxylase, epsilon

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NCBI Description of TMLHE

This gene encodes the protein trimethyllysine dioxygenase which is the first enzyme in the carnitine biosynthesis pathway. Carnitine play an essential role in the transport of activated fatty acids across the inner mitochondrial membrane. The encoded protein converts trimethyllysine into hydroxytrimethyllysine. A pseudogene of this gene is found on chromosome X. Alternate 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

TMLHE is highly significantly mutated in
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TMLHE is significantly mutated in
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TMLHE 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 TMLHE