SDS-PAGE
Trimethyllysine dioxygenase Recombinant Protein | TMLHE recombinant protein
Recombinant Human Trimethyllysine dioxygenase, mitochondrial
SDS-PAGE
SDS-PAGE
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
TMLHE: Converts trimethyllysine (TML) into hydroxytrimethyllysine (HTML). Defects in TMLHE are the cause of epsilon-trimethyllysine hydroxylase deficiency (TMLHED). An inborn error of carnitine biosynthesis associated with an increased risk for developing autistic behavior. Autism is a complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental retardation. Belongs to the gamma-BBH/TMLD family. 8 isoforms of the human protein are produced by alternative promoter.
Protein type: EC 1.14.11.8; Mitochondrial; Amino Acid Metabolism - lysine degradation; Oxidoreductase
Chromosomal Location of Human Ortholog: Xq28
Cellular Component: mitochondrial matrix; mitochondrion
Molecular Function: iron ion binding; L-ascorbic acid binding; oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen; trimethyllysine dioxygenase activity
Biological Process: branched chain family amino acid catabolic process; carnitine biosynthetic process; negative regulation of oxidoreductase activity
Disease: Epsilon-trimethyllysine Hydroxylase Deficiency
Research Articles on TMLHE
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Product Notes
The TMLHE tmlhe (Catalog #AAA969626) is a Recombinant Protein produced from E Coli or Yeast or Baculovirus or Mammalian Cell and is intended for research purposes only. The product is available for immediate purchase. The immunogen sequence is 16-376aa; Full Length of Isoform 4. The amino acid sequence is listed below: LLKGGVIYPA LPQPNFKSLL PLAVHWHHTA SKSLTCAWQQ HEDHFELKYA NTVMRFDYVW LRDHCRSASC YNSKTHQRSL DTASVDLCIK PKTIRLDETT LFFTWPDGHV TKYDLNWLVK NSYEGQKQKV IQPRILWNAE IYQQAQVPSV DCQSFLETNE GLKKFLQNFL LYGIAFVENV PPTQEHTEKL AERISLIRET IYGRMWYFTS DFSRGDTAYT KLALDRHTDT TYFQEPCGIQ VFHCLKHEGT GGRTLLVDGF YAAEQVLQKA PEEFELLSKV PLKHEYIEDV GECHNHMIGI GPVLNIYPWN KELYLIRLFK EKQNTVNRQW NSSLQCDIPE RILTYRHFVS GTSIEHRGSL I. It is sometimes possible for the material contained within the vial of "Trimethyllysine dioxygenase, Recombinant Protein" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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