FDX2
entrez
112812
canonical
uniprot
Q6P4F2
canonical
ensembl
ENSG00000167807
resolver
ensembl
ENSG00000267673
resolver
ensp
ENSP00000377311
resolver
genesymbol
FDX2
resolver
genesymbol_syn
FDX1L
resolver
hgnc
HGNC:30546
resolver
uniprot
B7Z6L7
resolver
uniprot
Q8N8B8
resolver
uniprot_entry
FDX2_HUMAN
resolver
uniprot_sec
B7Z6L7
resolver
uniprot_sec
Q8N8B8
resolver
amino_acid_sequence
MAASMARGGVSARVLLQAARGTWWNRPGGTSGSGEGVALGTTRKFQATGSRPAGEEDAGGPERPGDVVNVVFVDRSGQRIPVSGRVGDNVLHLAQRHGVDLEGACEASLACSTCHVYVSEDHLDLLPPPEEREDDMLDMAPLLQENSRLGCQIVLTPELEGAEFTLPKITRNFYVDGHVPKPH
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy (MEOAL) [MIM:251900]: An autosomal recessive neuromuscular disorder characterized by childhood onset of recurrent episodes of proximal weakness and myalgia often precipitated by exercise, infections or low temperature. Additional features are optic atrophy, axonal polyneuropathy, and reversible or partially reversible leukoencephalopathy. {ECO:0000269|PubMed:24281368, ECO:0000269|PubMed:30010796}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Electron donor, of the core iron-sulfur cluster (ISC) assembly complex, that acts to reduce the persulfide into sulfide during [2Fe-2S] clusters assembly on the scaffolding protein ISCU (PubMed:28001042). The core iron-sulfur cluster (ISC) assembly complex is involved in the de novo synthesis of a [2Fe-2S] cluster, the first step of the mitochondrial iron-sulfur protein biogenesis (By similarity). This process is initiated by the cysteine desulfurase complex (NFS1:LYRM4:NDUFAB1) that produces persulfide which is delivered on the scaffold protein ISCU in a FXN-dependent manner (By similarity). Then this complex is stabilized by FDX2 which provides reducing equivalents to accomplish the [2Fe-2S] cluster assembly (By similarity). Finally, the [2Fe-2S] cluster is transferred from ISCU to chaperone proteins, including HSCB, HSPA9 and GLRX5 (By similarity). Essential for coenzyme Q biosynthesis: together with FDXR, transfers the electrons required for the hydroxylation reaction performed by COQ6 (PubMed:38425362). {ECO:0000250|UniProtKB:Q9H1K1, ECO:0000269|PubMed:28001042, ECO:0000269|PubMed:38425362}.
uniprot
proteins
mass_dalton
19521
uniprot
proteins
protein_family
Adrenodoxin/putidaredoxin family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
20547883
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24281368
uniprot
proteins
pubmed
28001042
uniprot
proteins
pubmed
29097656
uniprot
proteins
pubmed
30010796
uniprot
proteins
pubmed
38425362
uniprot
proteins
sequence_length
183
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:20547883, ECO:0000269|PubMed:24281368}. Mitochondrion matrix {ECO:0000250|UniProtKB:P10109}.
uniprot
proteins