Frataxin Recombinant Rabbit Monoclonal Antibody - BSA and Azide free [PSH15-18] (HA751547)

UNIPROT #

Q16595

PROTEIN NAME

Frataxin

SYNONYMS

CyaY antibody;d-FXN antibody;FA antibody;FARR antibody;Frataxin mature form antibody;Frataxin(81-210) antibody;FRDA antibody;FRDA_HUMAN antibody;Friedreich ataxia protein antibody;Fxn antibody;i-FXN antibody;m56-FXN antibody;m78-FXN antibody;m81-FXN antibody;MGC57199 antibody;X25 antibody

SUBCELLULAR LOCATION

Mitochondrion; Cytoplasm, cytosol.

FUNCTION

Frataxin is a protein that in humans is encoded by the FXN gene. It is located in the mitochondrion and Frataxin mRNA is mostly expressed in tissues with a high metabolic rate. The function of frataxin is not entirely clear, but it seems to be involved in assembly of iron-sulfur clusters. It has been proposed to act as either an iron chaperone or an iron storage protein. Frataxin mRNA is predominantly expressed in tissues with a high metabolic rate (including liver, kidney, brown fat and heart). Mouse and yeast frataxin homologues contain a potential N-terminal mitochondrial targeting sequence, and human frataxin has been observed to co-localise with a mitochondrial protein. Furthermore, disruption of the yeast gene has been shown to result in mitochondrial dysfunction. Friedreich's ataxia is thus believed to be a mitochondrial disease caused by a mutation in the nuclear genome (specifically, expansion of an intronic GAA triplet repeat in the FXN gene, which encodes the protein frataxin.).