• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
FXN (HGNC:3951) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
frataxin
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
FRDA
Alias symbols
FA, FARR, X25, CyaY
%HI
66.77(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.34(Read more about gnomAD pLI score)
LOEUF
0.72(Read more about gnomAD LOEUF score)
Cytoband
9q21.11
Genomic Coordinates
GRCh37/hg19: chr9:71650668-71693992 NCBI Ensembl UCSC
GRCh38/hg38: chr9:69035752-69079076 NCBI Ensembl UCSC
MANE Select Transcript
NM_000144.5 ENST00000484259.3 (Read more about MANE Select)
Function
[Frataxin mature form]: Functions as an activator of persulfide transfer to the scaffoding protein ISCU as component of the core iron-sulfur cluster (ISC) assembly complex and participates to the [2Fe-2S] cluster assembly (PubMed:24971490, PubMed:12785837). Accelerates sulfur transfer from NFS1 persulfide intermediate to ISCU and to small thiols such as L-cysteine and glutathione leading to persulfuration of these thiols and ultimately sulfide release (PubMed:24971490). Binds ferrous ion and is ... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-34425
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000009.11) (NC_000009.12)