Anti-MTFMT monoclonal antibody (DCABH-867)

Mouse anti-Human MTFMT monoclonal antibody for WB Datasheet

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Specifications


Host Species
Mouse
Antibody Isotype
IgG1
Clone
2C21
Species Reactivity
Human
Immunogen
Recombinant fragment, corresponding to amino acids 175-389 of Human MTFMT produced in E.coli (NP_640335).
Conjugate
Unconjugated

Applications


Application Notes
WB: 1/500 - 1/2000;
*Suggested working dilutions are given as a guide only. It is recommended that the user titrates the product for use in their own experiment using appropriate negative and positive controls.

Target


Alternative Names
MTFMT; mitochondrial methionyl-tRNA formyltransferase; methionyl-tRNA formyltransferase, mitochondrial; FMT1
Entrez Gene ID
UniProt ID

Product Background


Gene summary
MTFMT (Mitochondrial Methionyl-TRNA Formyltransferase) is a Protein Coding gene. Diseases associated with MTFMT include combined oxidative phosphorylation deficiency 15 and leigh syndrome. Among its related pathways are tRNA Aminoacylation and Organelle biogenesis and maintenance. GO annotations related to this gene include hydroxymethyl-, formyl- and related transferase activity and methionyl-tRNA formyltransferase activity. The protein encoded by this nuclear gene localizes to the mitochondrion, where it catalyzes the formylation of methionyl-tRNA.
Antigen Description
Formylates methionyl-tRNA in mitochondria. A single tRNA(Met) gene gives rise to both an initiator and an elongator species via an unknown mechanism. Combined oxidative phosphorylation deficiency 15 (COXPD15) [MIM:614947]: An autosomal recessive, mitochondrial, neurologic disorder characterized by features of Leigh syndrome and combined oxidative phosphorylation deficiency. Clinical features include mild global developmental delay, white matter abnormalities, ataxia, incoordination, speech and reading difficulties, T2-weighted hyperintensities in the basal ganglia, corpus callosum, and brainstem. Note=The disease is caused by mutations affecting the gene represented in this entry. Leigh syndrome (LS) [MIM:256000]: An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. Mitochondrial methionyl-tRNA formyltransferase is a protein that in humans is encoded by the MTFMT gene. 0The function about MTFMT antigen include methionyl-tRNA formyltransferase activity; methyltransferase activity; transferase activity.
Pathway
Aminoacyl-tRNA biosynthesis, organism-specific biosystem; Aminoacyl-tRNA biosynthesis, conserved biosystem; One Carbon Metabolism, organism-specific biosystem; One carbon pool by folate, organism-specific biosystem; One carbon pool by folate, conserved biosystem.

Citations


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References


Neeve, VCM; Pyle, A; et al. Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT. MITOCHONDRION 13:743-748(2013).

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