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Trimethyllysine Hydroxylase Epsilon (TMLHe)

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TMLH; BBOX2; XAP130; TML hydroxylase; TML-alpha-ketoglutarate dioxygenase; Butyrobetaine(Gamma),2-Oxoglutarate Dioxygenase(Gamma-Butyrobetaine Hydroxylase)2

Trimethyllysine Hydroxylase Epsilon (TMLHe)
CCC E259
HGNC 18308
MGI 2180203
PubMed 23092983
RGD 620629
UniProt Q9NVH6
Wiki TMLHE
Epsilon-N-trimethyllysine hydroxylase (EC 1.14.11.8) catalyzes the conversion of epsilon-N-trimethyllysine to beta-hydroxy-N-epsilon-trimethyllysine in the first step of L-carnitine biosynthesis.
The deduced 421-amino acid human TMLHE and 405-amino acid rat Tmlhe proteins have calculated molecular masses of 49.5 kD and 47.5 kD, respectively, and share 92% amino acid identity. Subcellular fractionation localized rat Tmlhe to mitochondria. Rat Tmlhe was synthesized as a 47.5-kD precursor that is processed to an approximately 43-kD protein, most likely through cleavage of a mitochondrial targeting signal. Gel filtration analysis showed rat Tmlhe as an 87-kD band, suggesting that Tmlhe forms a homodimer.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Trimethyllysine Hydroxylase Epsilon (TMLHe) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Trimethyllysine Hydroxylase Epsilon (TMLHe) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Trimethyllysine Hydroxylase Epsilon (TMLHe) Polyclonal Antibody Customized Service Offer
Assay Kits SEE259Hu ELISA Kit for Trimethyllysine Hydroxylase Epsilon (TMLHe) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Trimethyllysine Hydroxylase Epsilon (TMLHe) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Trimethyllysine Hydroxylase Epsilon (TMLHe) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Trimethyllysine Hydroxylase Epsilon (TMLHe) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Trimethyllysine Hydroxylase Epsilon (TMLHe) CLIA Kit Customized Service Offer
n/a ELISA Kit for Trimethyllysine Hydroxylase Epsilon (TMLHe) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Trimethyllysine Hydroxylase Epsilon (TMLHe) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Trimethyllysine Hydroxylase Epsilon (TMLHe) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Trimethyllysine Hydroxylase Epsilon (TMLHe) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Trimethyllysine Hydroxylase Epsilon (TMLHe) CLIA Kit Customized Service Offer
n/a ELISA Kit for Trimethyllysine Hydroxylase Epsilon (TMLHe) ELISA Kit Customized Service Offer
  1. "Molecular and biochemical characterization of rat epsilon-N-trimethyllysine hydroxylase, the first enzyme of carnitine biosynthesis."J. Biol. Chem. 276:33512-33517(2001) [PubMed] [Europe PMC] [Abstract]
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  3. "The DNA sequence of the human X chromosome." Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  5. "Functional analysis of TMLH variants and definition of domains required for catalytic activity and mitochondrial targeting."J. Cell. Physiol. 204:839-847(2005) [PubMed] [Europe PMC] [Abstract]
  6. "Functional characterization of the TMLH gene: promoter analysis, in situ hybridization, identification and mapping of alternative splicing variants."Gene 395:86-97(2007) [PubMed] [Europe PMC] [Abstract]
  7. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
  8. "Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE."Hum. Mol. Genet. 20:4360-4370(2011) [PubMed] [Europe PMC] [Abstract]