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
EC number	1.16.3.1
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 dissimilation; • embryo development ending in birth or egg hatching; • propriodderbyniaeth; • negative regulation of multicellular organism growth; • negative regulation of organ growth;
	Sources:Amigo / QuickGO
Orthologau
	2395
	n/a
	ENSG00000165060
	n/a
	Q16595
	n/a
	NM_181425; NM_000144; NM_001161706
	n/a
	NP_000135; NP_852090
	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.^[2]

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.

Cyfeiriadau

[1] "Human PubMed Reference:".

[2] FXN - Cronfa NCBI

[1]

[2]

FXN

Cyfystyron

Llyfryddiaeth

Cyfeiriadau

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