| 620629 | Tmlhe | trimethyllysine hydroxylase, epsilon | ENCODES a protein that exhibits trimethyllysine dioxygenase activity; oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (ortholog); INVOLVED IN carnitine biosynthetic process; PARTICIPATES IN carnitine biosynthetic pathway; lysine degradation pathway; ASSOCIATED WITH Agenesis of Corpus Callosum (ortholog); autistic disorder (ortholog); cerebellar hypoplasia (ortholog); FOUND IN mitochondrial matrix; mitochondrion (ortholog); INTERACTS WITH (+)-schisandrin B; 2,3,7,8-tetrachlorodibenzodioxine; 2,6-dinitrotoluene | 20 | 96561 | 144414 | Rat | 106 | symbol , PhenoGen | gene, protein-coding, VALIDATED [RefSeq] |
| 736195 | TMLHE | trimethyllysine hydroxylase, epsilon | 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 hydroxytrim ethyllysine. A pseudogene of this gene is found on chromosome X. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010] | X | 155489011 | 155612952 | Human | 127 | symbol , COSMIC , Human Proteome Map , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 8738210 | Tmlhe | trimethyllysine hydroxylase, epsilon | ENCODES a protein that exhibits oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (ortholog); trimethyllysine dioxygenase activity (ortholog); INVOLVED IN carnitine biosynthetic process (ortholog); PARTICIPATES IN carnitine biosynthetic pathway; ASSOCIATED WITH Agenesis of Corpus Callosum (ortholog); autistic disorder (ortholog); cerebellar hypoplasia (ortholog); FOUND IN mitochondrial matrix (ortholog); mitochondrion (ortholog) | NW_004955594 | 272668 | 329997 | Chinchilla | 23 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 11973691 | TMLHE | trimethyllysine hydroxylase, epsilon | ENCODES a protein that exhibits oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (ortholog); trimethyllysine dioxygenase activity (ortholog); INVOLVED IN carnitine biosynthetic process (ortholog); PARTICIPATES IN carnitine biosynthetic pathway; ASSOCIATED WITH Agenesis of Corpus Callosum (ortholog); autistic disorder (ortholog); cerebellar hypoplasia (ortholog); FOUND IN mitochondrial matrix (ortholog); mitochondrion (ortholog) | X | 144956906 | 145081204 | Bonobo | 23 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12278806 | TMLHE | trimethyllysine hydroxylase, epsilon | ENCODES a protein that exhibits oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (ortholog); trimethyllysine dioxygenase activity (ortholog); INVOLVED IN carnitine biosynthetic process (ortholog); PARTICIPATES IN carnitine biosynthetic pathway; ASSOCIATED WITH Agenesis of Corpus Callosum (ortholog); autistic disorder (ortholog); cerebellar hypoplasia (ortholog); FOUND IN mitochondrial matrix (ortholog); mitochondrion (ortholog) | X | 123322773 | 123438999 | Dog | 29 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12687112 | Tmlhe | trimethyllysine hydroxylase, epsilon | ENCODES a protein that exhibits oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (ortholog); trimethyllysine dioxygenase activity (ortholog); INVOLVED IN carnitine biosynthetic process (ortholog); PARTICIPATES IN carnitine biosynthetic pathway; ASSOCIATED WITH Agenesis of Corpus Callosum (ortholog); autistic disorder (ortholog); cerebellar hypoplasia (ortholog); FOUND IN mitochondrial matrix (ortholog); mitochondrion (ortholog) | NW_004936958 | 64713 | 113627 | Squirrel | 23 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 18488423 | TMLHE | trimethyllysine hydroxylase, epsilon | ENCODES a protein that exhibits oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (ortholog); trimethyllysine dioxygenase activity (ortholog); INVOLVED IN carnitine biosynthetic process (ortholog); PARTICIPATES IN carnitine biosynthetic pathway; ASSOCIATED WITH Agenesis of Corpus Callosum (ortholog); autistic disorder (ortholog); cerebellar hypoplasia (ortholog); FOUND IN mitochondrial matrix (ortholog) | | | | Green Monkey | 29 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 626089799 | Tmlhe | trimethyllysine hydroxylase, epsilon | ENCODES a protein that exhibits oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (ortholog); trimethyllysine dioxygenase activity (ortholog); INVOLVED IN carnitine biosynthetic process (ortholog); PARTICIPATES IN carnitine biosynthetic pathway; ASSOCIATED WITH Agenesis of Corpus Callosum (ortholog); autistic disorder (ortholog); cerebellar hypoplasia (ortholog); FOUND IN mitochondrial matrix (ortholog); mitochondrion (ortholog) | | | | Black Rat | 23 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 733461 | Tmlhe | trimethyllysine hydroxylase, epsilon | Enables oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen and trimethyllysine dioxygenase activity. Acts upstream of or within carnitine biosynthetic process. Located in mitochondrion. Is expressed in several structures, inc luding brain; liver; and lung. Human ortholog(s) of this gene implicated in autistic disorder. Orthologous to human TMLHE (trimethyllysine hydroxylase, epsilon). [provided by Alliance of Genome Resources, Jul 2025] | | | | Mouse | 120 | symbol , PhenoGen , description | gene, protein-coding, VALIDATED [RefSeq] |
| 155249792 | tmlhe | | | | | | Tropical Clawed Frog | | symbol | gene, null |
| 13912902 | TMLHE | trimethyllysine hydroxylase, epsilon | ENCODES a protein that exhibits oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (ortholog); trimethyllysine dioxygenase activity (ortholog); INVOLVED IN carnitine biosynthetic process (ortholog); PARTICIPATES IN carnitine biosynthetic pathway; ASSOCIATED WITH Agenesis of Corpus Callosum (ortholog); autistic disorder (ortholog); cerebellar hypoplasia (ortholog); FOUND IN mitochondrial matrix (ortholog) | | | | Pig | 29 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 18934362 | Tmlhe | trimethyllysine hydroxylase, epsilon | ENCODES a protein that exhibits oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (ortholog); trimethyllysine dioxygenase activity (ortholog); INVOLVED IN carnitine biosynthetic process (ortholog); PARTICIPATES IN carnitine biosynthetic pathway; ASSOCIATED WITH Agenesis of Corpus Callosum (ortholog); autistic disorder (ortholog); cerebellar hypoplasia (ortholog); FOUND IN mitochondrial matrix (ortholog) | | | | Naked Mole-Rat | 27 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 155254875 | tmlhe.L | | | | | | African Clawed Frog | | symbol | gene, null |
| 155234268 | tmlhe.S | | | | | | African Clawed Frog | | symbol | gene, null |
| 6893191 | TMLHE-AS1 | TMLHE antisense RNA 1 | INTERACTS WITH okadaic acid; sodium arsenite | X | 155466540 | 155494110 | Human | 2 | symbol , COSMIC , name , Human Proteome Map | gene, ncrna, VALIDATED [RefSeq] |
| 38632364 | TMLHEP1 | TMLHE pseudogene 1 | | X | 155349581 | 155352238 | Human | | symbol , GTEx , COSMIC , name , Human Proteome Map | gene, pseudo, INFERRED [RefSeq] |
| 16554766 | AC234781.2 | trimethyllysine hydroxylase, epsilon (TMLHE) pseudogene | | | | | Human | | name | gene, transcribed_unprocessed_pseudogene |