Products for Frataxin
Overview
Frataxin is a nuclear-encoded mitochondrial protein. 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 Friedreich's Ataxia (FRDA).
FRDA is an inherited recessive neurodegenerative disorder caused by
decreased expression levels of frataxin. The most common mutation
causing FRDA is the expansion of the GAA triplet repeat.
Disease-associate repeats have 100 to 1700 triplets within the first
intron of both copies of the gene.
FRDA is the most common inherited ataxia and it causes progressive
damage to the nervous system, resulting in symptoms ranging from muscle
weakness and speech problems to heart disease. About one in 50,000
people in the United States have Friedreich's Ataxia. Symptoms usually
appear between the ages of 5 and 15.
Products
MSF01
Frataxin monoclonal antibody
100 µg of monoclonal antibody against frataxin, suitable for use in
Western Blotting and Immunocytochemistry.
MSF31
MitoProfile® Dipstick Assay Kit for Frataxin
Contains 30 or 60 dipsticks and necessary components for quantitative
analysis of human frataxin protein levels.
MSF41
Rapid Microplate Assay Kit for Frataxin
Frataxin is a nuclear-encoded mitochondrial protein. 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. Friedreich's Ataxia (FRDA) is
an inherited recessive neurodegenerative disorder caused by decreased
expression levels of frataxin. FRDA is the most common inherited ataxia
and it causes progressive damage to the nervous system, resulting in
symptoms ranging from muscle weakness and speech problems to heart
disease. About one in 50,000 people in the United States have
Friedreich's Ataxia.
MSF42
Recombinant Human Frataxin
Frataxin is a nuclear-encoded mitochondrial protein. 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. Friedreich's Ataxia (FRDA) is
an inherited recessive neurodegenerative disorder caused by decreased
expression levels of frataxin. FRDA is the most common inherited ataxia
and it causes progressive damage to the nervous system, resulting in
symptoms ranging from muscle weakness and speech problems to heart
disease. About one in 50,000 people in the United States have
Friedreich's Ataxia.
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Featured
Product
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MSF31
Dipstick Assay Kit for Frataxin
MitoSciences Dipstick Assay technology is a fast, reproducible,
quantitative method for measuring small amounts of target protein from
a wide range of sources.
Click
here to learn more about the Dipstick technology. |
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