FXN |
- 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:
- Friedreich ataxia 1 Monarch
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)