Aliases for TMLHE Gene
External Ids for TMLHE Gene
Previous GeneCards Identifiers for TMLHE Gene
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]
GeneCards Summary for TMLHE Gene
TMLHE is a Protein Coding gene. Diseases associated with TMLHE include epsilon-trimethyllysine hydroxylase deficiency and pervasive developmental disorder. Among its related pathways are Metabolism and Metabolism of amino acids and derivatives. GO annotations related to this gene include iron ion binding and oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen. An important paralog of this gene is BBOX1.
UniProtKB/Swiss-Prot for TMLHE Gene
Converts trimethyllysine (TML) into hydroxytrimethyllysine (HTML)