Western blot
All lanes: MTO1 antibody at 2.25µg/ml
Lane 1: Rat heart tissue
Lane 2: Jurkat whole cell lysate
Secondary
Goat polyclonal to rabbit IgG at 1/10000 dilution
Predicted band size: 80, 67, 35, 78, 73, 82 kDa
Observed band size: 80, 67, 35 kDa
Immunohistochemistry of paraffin-embedded human brain tissue using CSB-PA846064ESR2HU at dilution of 1:100
Immunohistochemistry of paraffin-embedded human kidney tissue using CSB-PA846064ESR2HU at dilution of 1:100
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貨期:
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Involved in the 5-carboxymethylaminomethyl modification (mnm(5)s(2)U34) of the wobble uridine base in mitochondrial tRNAs.
基因功能參考文獻(xiàn):
Two novel variants (c.[253G > A];[938G > A]) in the MTO1 gene were identified in a child with cardiomyopathy with early-onset brain disease. PMID: 29440775
MTO1 deficiency is lethal in some but not all cases, and a genotype-phenotype relation is suggested. Aside from lactic acidosis and cardiomyopathy, developmental delay and other phenotypic features affecting multiple organ systems are often present in these patients, suggesting a broader spectrum than hitherto reported. PMID: 29331171
Defects in the mitochondrial tRNA modification enzymes MTO1 and GTPBP3 promote different metabolic reprogramming through a HIF-PPARgamma-UCP2-AMPK axis. PMID: 29348686
Whole-exome sequencing (WES) indicated a double homozygous mutation in the mitochondrial tRNA translation optimization 1 protein (MTO1) gene (p.R504C and p.V557M) in two of the patients and the homozygous mutation p.R504C in the other. PMID: 27256614
Optic neuropathy, cardiomyopathy, and cognitive disability was found in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variant. PMID: 26061759
MTO1 mediates tRNA modification and controls mitochondrial translation rate in a highly tissue-specific manner associated with tissue-specific oxidative phosphorylation defects. PMID: 25552653
Results show that post-transcriptional expression of GTPBP3, MTO1 and TRMU genes is down-regulated, leading to mt-tRNA hypomodification and contributing to mitochondrial dysfunction in MELAS cybrids. PMID: 25149473
Nuclear-encoded mitochondrial MTO1 and MRPL41 are regulated in an opposite epigenetic mode based on estrogen receptor status in breast cancer. PMID: 24160266
MTO1 mutations are commonly associated with a presentation of hypertrophic cardiomyopathy, lactic acidosis, and MRC deficiency. PMID: 23929671
MTO1 mutations have roles in hypertrophic cardiomyopathy and lactic acidosis PMID: 22608499
identification of full-length cDNA and elucidation of genomic organization of the human MTO1 homolog PMID: 12011058
Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3. PMID: 15542390
proposed linkage in chromosome 8 and the association with TRMU and MTO1 genes were studied in A1555G deafness PMID: 18391568