TMLHE, Official Symbol TMLHEprovided by HGNC Official Full Name trimethyllysine hydroxylase, epsilonprovided by HGNC Primary source HGNC:HGNC:18308 See related Ensembl:ENSG00000185973 MIM:300777; AllianceGenome:HGNC:18308 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TMLD; TMLH; BBOX2; AUTSX6; TMLHED; XAP130 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.[provided by RefSeq, May 2010] Expression Ubiquitous expression in heart (RPKM 6.4), fat (RPKM 5.3) and 25 other tissues See more Orthologs mouse all