免 疫 原：KLH conjugated synthetic peptide derived from human Frataxin
抗原表位：110-210/210
SWISS：Q16595
Gene ID ：2395
Human Gene ID：2395

Friedreich ataxia is a progressive neurodegenerative disorder caused by loss of function mutations in the frataxin gene. The human frataxin gene maps to chromosome 9q13.The frataxin gene encodes a mitochondrial protein of the same name. Frataxin assembles into a stable homopolymer with iron-binding capabilities. When expressed in E. Coli human frataxin binds iron atoms at a rate of 10 iron atoms per 1 molecule of the frataxin polymer. Thus, frataxin appears to function in some capacity for iron-storage for the mitochondria. Frataxin may also function as an activator of oxidative phosphorylation to increase mitochondrial membrane potential and elevate cellular ATP. Frataxin is expressed in tissues with high metabolic activity including heart, liver and brown fat.
Function：Promotes the biosynthesis of heme and assembly and repair of iron-sulfur clusters by delivering Fe(2+) to proteins involved in these pathways. May play a role in the protection against iron-catalyzed oxidative stress through its ability to catalyze the ox
Subunit：Belongs to the frataxin family.
Subcellular Location：Cytoplasm. Mitochondrion. PubMed:18725397 reports localization exclusively in mitochondria.
Tissue Specificity：Expressed in the heart, peripheral blood lymphocytes and dermal fibroblasts.
Post-translational modifications：Processed in two steps by mitochondrial processing peptidase (MPP). MPP first cleaves the precursor to intermediate form and subsequently converts the intermediate to yield frataxin mature form (frataxin(81-210)) which is the predominant form. The additio
DISEASE：Defects in FXN are the cause of Friedreich ataxia (FRDA) [MIM:229300]. FRDA is an autosomal recessive, progressive degenerative disease characterized by neurodegeneration and cardiomyopathy it is the most common inherited ataxia. The disorder is usually m
Similarity：Belongs to the frataxin family.
Important Note：This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.