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TMLHE

Official Full Name
trimethyllysine hydroxylase, epsilon
Organism
Homo sapiens
GeneID
55217
Background
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.[provided by RefSeq, May 2010]
Synonyms
TMLD; TMLH; BBOX2; AUTSX6; TMLHED; XAP130;

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