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TMLHE / TMID is 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.
Gene Name: | trimethyllysine hydroxylase, epsilon |
Synonyms: | TMLHE, BBOX2, AUTSX6, TML dioxygenase, TMLHED, TML hydroxylase, TMLH, XAP130, TMLD |
Target Sequences: | NM_018196 NP_060666.1 Q9NVH6 |
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