FXN

FXN
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 1EKG, 1LY7, 3S4M, 3S5D, 3S5E, 3S5F, 3T3J, 3T3K, 3T3L, 3T3T, 3T3X
Dynodwyr
Cyfenwau	FXN, CyaY, FA, FARR, FRDA, X25, frataxin
Dynodwyr allanol	OMIM: 606829 HomoloGene: 47908 GeneCards: FXN
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • GO:0001948, GO:0016582 protein binding • iron chaperone activity • 2 iron, 2 sulfur cluster binding • oxidoreductase activity • ferrous iron binding • metal ion binding • ferric iron binding • ferroxidase activity Cydrannau o'r gell • cytoplasm • cytosol • mitochondrial matrix • mitocondria • L-cysteine desulfurase complex Prosesau biolegol • regulation of ferrochelatase activity • positive regulation of cell population proliferation • response to iron ion • iron-sulfur cluster assembly • cludo ïon • positive regulation of aconitate hydratase activity • positive regulation of cell growth • cellular response to hydrogen peroxide • negative regulation of release of cytochrome c from mitochondria • positive regulation of succinate dehydrogenase activity • protein autoprocessing • negative regulation of apoptotic process • small molecule metabolic process • iron ion homeostasis • iron incorporation into metallo-sulfur cluster • cellular iron ion homeostasis • heme biosynthetic process • positive regulation of lyase activity • GO:0048554 positive regulation of catalytic activity • oxidative phosphorylation • mitochondrion organization • adult walking behavior • aerobic respiration • embryo development ending in birth or egg hatching • proprioception • negative regulation of multicellular organism growth • negative regulation of organ growth Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	2395	n/a
Ensembl	ENSG00000165060	n/a
UniProt	Q16595	n/a
RefSeq (mRNA)	NM_181425 NM_000144 NM_001161706	n/a
RefSeq (protein)	NP_000135 NP_852090	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search		n/a
Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn FXN yw FXN a elwir hefyd yn Frataxin, mitochondrial a Frataxin (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn blaen o gromosom dynol 9, band 9q21.11.

Cyfystyron

Yn aml mae gan enynnau lawer o gyfystyron. Mae hyn oherwydd eu bod yn aml yn cael eu darganfod gan nifer o bobl mewn cyd-destunau gwahanol heb wybod mai'r un genynnau oeddyn nhw. Hefyd mae gan wahanol gymunedau gwyddonol safonau gwahanol ar gyfer enwi genynnau. Dyma restr o gyfystyron ar gyfer y genyn FXN.

• FA
• X25
• CyaY
• FARR
• FRDA

Llyfryddiaeth

• "Insights on the conformational dynamics of human frataxin through modifications of loop-1. ". Arch Biochem Biophys. 2017. PMID 29097312.
• "Alleviating GAA Repeat Induced Transcriptional Silencing of the Friedreich's Ataxia Gene During Somatic Cell Reprogramming. ". Stem Cells Dev. 2016. PMID 27615158.
• "Human Frataxin Folds Via an Intermediate State. Role of the C-Terminal Region. ". Sci Rep. 2016. PMID 26856628.
• "Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia. ". Ann Neurol. 2016. PMID 26704351.
• "Perturbation of cellular proteostasis networks identifies pathways that modulate precursor and intermediate but not mature levels of frataxin.". Sci Rep. 2015. PMID 26671574.