QuickView for frdA (gene)

Gene Symbol:

FXN Homo sapiens

Full name:

frataxin

Synonyms:

CyaY, FA, FARR, FRDA, X25, frataxin, mitochondrial, Friedreich ataxia protein

Genomic Location:

Chr 9: 70840164-70878772

Description:

This nuclear gene encodes a mitochondrial protein which belongs to the FRATAXIN family. The protein functions in regulating mitochondrial iron transport and respiration. The expansion of intronic trinucleotide repeat GAA from 8-33 repeats to >90 repeats results in Friedreich ataxia. Alternative splicing results in multiple transcript variants.

This nuclear gene encodes a mitochondrial protein which belongs to the FRATAXIN family. The protein functions in regulating mitochondrial iron transport and respiration. The expansion of intronic trinucleotide repeat GAA from 8-33 repeats to >90 repeats results in Friedreich ataxia. Alternative splicing results in multiple transcript variants.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Schizosaccharomyces pombe ,  Gallus gallus ,  Bos taurus ,  Danio rerio ,  Canis lupus familiaris ,  Pan troglodytes

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

AACTGGA_MIR145 ,  GGGCGGR_SP1_Q6

Cytogenetic Map:

9q21.11

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