Tmlhe - trimethyllysine hydroxylase, epsilon Gene

Also Known as TMLD; TMLH; Bbox2; D430017M14Rik

Species: Mus musculus

Gene Type: protein coding
Gene ID: 192289

Summary

Enables oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen. Acts upstream of or within carnitine biosynthetic process. Located in mitochondrion. Is expressed in several structures, including 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, Apr 2022]

Tmlhe Products (1)

mRNA Protein Name
NM_138758.2 NP_620097.1 trimethyllysine dioxygenase, mitochondrial precursor

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence References Source
enables trimethyllysine dioxygenase activity IMP
IMP: Inferred from mutant phenotype
37553674 MGI
Biological Process GO Annotation Evidence References Source
involved in carnitine biosynthetic process IMP
IMP: Inferred from mutant phenotype
37553674 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

trimethyllysine dioxygenase, mitochondrial

  • TML dioxygenase

  • TML hydroxylase

  • TML-alpha-ketoglutarate dioxygenase

  • butyrobetaine (gamma), 2-oxoglutarate dioxygenase 2 (gamma-butyrobetaine hydroxylase)

  • epsilon-trimethyllysine 2-oxoglutarate dioxygenase

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS14758 TMLHE Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Tmlhe NCBI NCBI:55217