Gene: TMLHE
Alternate names for this Gene: AUTSX6|BBOX2|TMLD|TMLH|TMLHED|XAP130
Gene Summary: 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.
Gene is located in Chromosome: X
Location in Chromosome : Xq28
Description of this Gene: trimethyllysine hydroxylase, epsilon
Type of Gene: protein-coding
Gene: TMLHE-AS1
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