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Key Specifications Table
| Species Reactivity | Key Applications | Host | Format | Antibody Type |
|---|---|---|---|---|
| H, M, R | WB | Rb | Purified | Polyclonal Antibody |
| Description | |
|---|---|
| Catalogue Number | AB15080 |
| Description | Anti-Frataxin Antibody |
| Background Information | Frataxin is a nuclear encoded protein that is found in the mitochondria. This protein is not well understood but may be involved with iron sulfur clusters. In humans the gene is localized on chromosome 9 and is highly conserved during evolution. The gene is expressed in every cell, although in varying levels in different tissues and during development. The specific function of Frataxin is still unknown, but it has been shown to play a role in iron metabolism. Studies have demonstrated that the deletion of the Frataxin gene in yeast results in iron accumulation in mitochondria and loss of respiration. Recombinant human Frataxin has been shown to bind iron in vitro, and increased mitochondrial iron levels have been observed in patients with Friedreichs Ataxia (FRDA). |
| Product Information | |
|---|---|
| Format | Purified |
| Control |
|
| Presentation | Rabbit polyclonal serum in buffer containing 0.05% NaN3. |
| Quality Level | MQ100 |
| Applications | |
|---|---|
| Application | This Anti-Frataxin Antibody is validated for use in WB for the detection of Frataxin. |
| Key Applications |
|
| Biological Information | |
|---|---|
| Immunogen | GST-tagged Frataxin corresponding to mature chain. |
| Epitope | mature chain |
| Host | Rabbit |
| Specificity | Cat. # AB15080 recognizes Frataxin. |
| Species Reactivity |
|
| Antibody Type | Polyclonal Antibody |
| Entrez Gene Number |
|
| Entrez Gene Summary | This nuclear gene encodes a mitochondrial protein which belongs to FRATAXIN family. The protein functions in regulating mitochondrial iron transport and respiration. The expansion of intronic trinucleotide repeat GAA results in Friedreich ataxia. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq] |
| Purification Method | GST-depleted sera |
| UniProt Number |
|
| UniProt Summary | Function: Probably involved in iron homeostasis. Anti-apoptotic protein which prevents mitochondrial damage and reactive oxygen species (ROS) production. Ref.13 Subunit structure: Monomer. Subcellular location: Mitochondrion. Note= Mitochondrial and extramitochondrial. Ref.13 Ref.8 Ref.9 Tissue specificity: Frataxin(81-210) is expressed in the heart, peripheral blood lymphocytes and dermal fibroblasts. Ref.4 Post-translational modification: Processed in two steps by mitochondrial processing peptidase (MPP). MPP first cleaves the precursor to intermediate form and subsequently converts the intermediate to mature size protein. Two forms exist, frataxin(56-210) and frataxin(81-210) which is the main form of mature frataxin. Involvement in disease: Defects in FXN are the cause of Friedreich ataxia (FA) [MIM:229300]. FA is an autosomal recessive, progressive degenerative disease characterized by neurodegeneration and cardiomyopathy it is the most common inherited ataxia. The disorder is usually manifest before adolescence and is generally characterized by incoordination of limb movements, dysarthria, nystagmus, diminished or absent tendon reflexes, Babinski sign, impairment of position and vibratory senses, scoliosis, pes cavus, and hammer toe. In most patients, FA is due to GAA triplet repeat expansions in the first intron of the frataxin gene. But in some cases the disease is due to mutations in the coding region. Ref.6 Ref.7 Ref.16 Ref.17 Ref.18 Ref.19 Ref.20 Ref.21 Sequence similarities: Belongs to the frataxin family. |
| Molecular Weight | Approx. 18 kDa |
| Product Usage Statements | |
|---|---|
| Quality Assurance | Routinely evaluated by Western Blot on Human heart lysates. Western Blot Analysis: 1:1,000 - 1:10,000 dilution of this lot detected Frataxin on 10 ug of human heart lysate |
| Usage Statement |
|
| Storage and Shipping Information | |
|---|---|
| Storage Conditions | Stable for 1 year at -20ºC from date of receipt. |
| Packaging Information | |
|---|---|
| Material Size | 100 µL |