TRMU cdna clone
TRMU cDNA Clone
NCBI and Uniprot Product Information
NCBI Description
This nuclear gene encodes a mitochondrial tRNA-modifying enzyme. The encoded protein catalyzes the 2-thiolation of uridine on the wobble positions of tRNA(Lys), tRNA(Glu), and tRNA(Gln), resulting in the formation of 5-taurinomethyl-2-thiouridine moieties. Mutations in this gene may cause transient infantile liver failure. Polymorphisms in this gene may also influence the severity of deafness caused by mitochondrial 12S ribosomal RNA mutations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Uniprot Description
TRMU: Catalyzes the 2-thiolation of uridine at the wobble position (U34) of mitochondrial tRNA(Lys), tRNA(Glu) and tRNA(Gln). Required for the formation of 5-taurinomethyl-2- thiouridine (tm5s2U) of mitochondrial tRNA(Lys), tRNA(Glu), and tRNA(Gln) at the wobble position. ATP is required to activate the C2 atom of the wobble base. Defects in TRMU are a cause of transient infantile liver failure (LFIT). A transient disorder of hepatic function characterized by elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, increased serum lactate. Patients who survive the initial acute episode can recover, show normal development and have no recurrence. Belongs to the MnmA/TRMU family. 5 isoforms of the human protein are produced by alternative splicing.
Protein type: Mitochondrial; Transferase; EC 2.8.1.-
Chromosomal Location of Human Ortholog: 22q13
Cellular Component: mitochondrion; nucleoplasm
Disease: Deafness, Aminoglycoside-induced; Liver Failure, Infantile, Transient
Research Articles on TRMU
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Product Notes
The TRMU trmu (Catalog #AAA1266616) is a cDNA Clone and is intended for research purposes only. The product is available for immediate purchase. The amino acid sequence is listed below: ATGAAGAAGT CTTTGAGCAG AAGCACGTTA AGAAGCCCGA AGGGCTTTTC AGAAATCGGT TTGAAGTTAG AAATGGTTTC CCAGGATGCC CTGAGGAGAA CCATCTTCCC TCTGGGGGGA TTAACGAAAG AGTTTGTAAA GAAAATCGCT GCTGAGAATA GACTTCATCA TGTGCTTCAG AAGAAAGAGA GCATGGGCAT GTGTTTCATC GGGAAGAGGA ATTTTGAACA TTTCCTTCTT CAGTATCTGC AGCCTCGACC TGGTCACTTT ATTTCCATAG AAGACAATAA GGTTCTGGGA ACACATAAAG GTTGGTTCCT GTATACCTTG GGCCAGAGAG CAAACATAGG TGGCCTGAGA GAGCCCTGGT ACGTGGTGGA GAAGGACAGC GTCAAGGGTG ACGTGTTTGT GGCCCCCCGG ACAGACCACC CAGCCCTGTA CAGGGACCTG CTGAGGACCA GCCGCGTGCA CTGGATTGCG GAGGAGCCTC CCGCAGCACT GGTCCGGGAC AAGATGATGG AGTGCCACTT CCGATTCCGC CACCAGATGG CACTAGTGCC CTGTGTGCTG ACCCTCAATC AAGATGGCAC CGTGTGGGTG ACAGCTGTGC AGGCTGTGCG TGCCCTTGCC ACAGGACAGT TTGCTGTGTT CTACAAGGGG GACGAGTGCC TGGGCAGCGG GAAGATCCTG CGGCTGGGGC CGTCTGCCTA CACGCTCCAG AAGGGCCAGC GCAGAGCTGG GATGGCCACT GAGAGCCCCA GTGACAGCCC AGAAGATGGT CCAGGCCTGA GTCCCTTGCT CTGA. It is sometimes possible for the material contained within the vial of "TRMU, cDNA Clone" 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
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