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Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.

Authors: Campuzano, V  Montermini, L  Molto, MD  Pianese, L  Cossee, M  Cavalcanti, F  Monros, E  Rodius, F  Duclos, F  Monticelli, A  Zara, F  Canizares, J  Koutnikova, H  Bidichandani, SI  Gellera, C  Brice, A  Trouillas, P  De Michele, G  Filla, A  De Frutos, R  Palau, F  Patel, PI  Di Donato, S  Mandel, JL  Cocozza, S  Koenig, M  Pandolfo, M 
Citation: Campuzano V, etal., Science. 1996 Mar 8;271(5254):1423-7.
Pubmed: (View Article at PubMed) PMID:8596916

Friedreich's ataxia (FRDA) is an autosomal recessive, degenerative disease that involves the central and peripheral nervous systems and the heart. A gene, X25, was identified in the critical region for the FRDA locus on chromosome 9q13. This gene encodes a 210-amino acid protein, frataxin, that has homologs in distant species such as Caenorhabditis elegans and yeast. A few FRDA patients were found to have point mutations in X25, but the majority were homozygous for an unstable GAA trinucleotide expansion in the first X25 intron.

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CRRD Object Information
CRRD ID: 1582636
Created: 2006-11-15
Species: All species
Last Modified: 2006-11-15
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.