Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol TMLHE contributors: mct - updated : 19-05-2016
HGNC name trimethyllysine hydroxylase, epsilon
HGNC id 18308
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminal Mitochondrial Target Sequence (MTS
  • mono polymer homomer , dimer
    HOMOLOGY
    interspecies ortholog to rattus Tmlhe (87.2pc)
    ortholog to murine Tmlhe (94.4pc)
    Homologene
    FAMILY GAMMA-BBH/TMLD family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,matrix
    text
  • localized in mitochondria
  • basic FUNCTION
  • first and key enzyme in carnitine biosynthesis, converting trimethyllysine (TML) into hydroxytrimethyllysine (HTML)
  • is the first enzyme of the carnitine biosynthesis pathway
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS electron transport
    PATHWAY
    metabolism aminoacid
    signaling
  • carnitine biosynthesis
  • a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor,
  • Fe2+
  • ascorbate
  • protein
    cell & other
    REGULATION
    Other tight transcriptional and post-transcriptional control of TMLHE expression
    ASSOCIATED DISORDERS
    corresponding disease(s) AUTSX6
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS