Anti-POLG2 monoclonal antibody (DCABH-12975) Made to order

Rabbit anti-Human POLG2 monoclonal antibody for WB, ELISA

View other POLG2 antibodies

Specifications


Host Species
Rabbit
Antibody Isotype
IgG
Species Reactivity
Human
Immunogen
A synthetic peptide of human POLG2 is used for rabbit immunization.
Conjugate
Unconjugated

Target


Alternative Names
POLG2; polymerase (DNA directed), gamma 2, accessory subunit; DNA polymerase subunit gamma-2, mitochondrial; HP55; MTPOLB; p55
Entrez Gene ID
UniProt ID

Product Background


Gene summary
POLG2 (Polymerase (DNA) Gamma 2, Accessory Subunit) is a Protein Coding gene. Diseases associated with POLG2 include progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 and autosomal dominant progressive external ophthalmoplegia. Among its related pathways are Metabolism and Platinum Pathway, Pharmacokinetics/Pharmacodynamics. GO annotations related to this gene include identical protein binding and DNA-directed DNA polymerase activity. This gene encodes the processivity subunit of the mitochondrial DNA polymerase gamma. The encoded protein forms a heterotrimer containing one catalytic subunit and two processivity subunits. This protein enhances DNA binding and promotes processive DNA synthesis. Mutations in this gene result in autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions.
Antigen Description
This gene encodes the processivity subunit of the mitochondrial DNA polymerase gamma. The encoded protein forms a heterotrimer containing one catalytic subunit and two processivity subunits. This protein enhances DNA binding and promotes processive DNA synthesis. Mutations in this gene result in autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletionsProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 4 (PEOA4) [MIM:610131]: A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Note=The disease is caused by mutations affecting the gene represented in this entry. DNA polymerase subunit gamma-2, mitochondrial is an protein that in humans is encoded by the POLG2 gene. The POLG2 gene encodes a 55 kDa accessory subunit protein that imparts high processivity and salt tolerance to the catalytic subunit of DNA polymerase gamma, encoded by the POLG gene. 0The function about POLG2 antigen include ATP binding; DNA binding; DNA-directed DNA polymerase activity; glycine-tRNA ligase activity; identical protein binding; nucleotide binding; nucleotidyltransferase activity; protein binding; single-stranded DNA binding; transferase activity.
Pathway
DNA polymerase gamma complex, organism-specific biosystem; Metabolic pathways, organism-specific biosystem.

Citations


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References


Rocher, C; Letellier, T; et al. Base composition at mtDNA boundaries suggests a DNA triple helix model for human mitochondrial DNA large-scale rearrangements. MOLECULAR GENETICS AND METABOLISM 76:123-132(2002).
Filosto, M; Mancuso, M; et al. Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma. ARCHIVES OF NEUROLOGY 60:1279-1284(2003).

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