ETFDH
entrez
2110
canonical
uniprot
Q16134
canonical
ensembl
ENSG00000171503
resolver
ensp
ENSP00000303552
resolver
ensp
ENSP00000426638
resolver
ensp
ENSP00000507276
resolver
ensp
ENSP00000507471
resolver
ensp
ENSP00000508043
resolver
enst
ENST00000683305
resolver
enst
ENST00000684036
resolver
enst
ENST00000684627
resolver
genesymbol
ETFDH
resolver
hgnc
HGNC:3483
resolver
uniprot
A0A804HIY4
resolver
uniprot
B4DEQ0
resolver
uniprot
B4E3R9
resolver
uniprot
J3KND9
resolver
uniprot
Q7Z347
resolver
uniprot_entry
A0A804HIY4_HUMAN
resolver
uniprot_entry
B4DEQ0_HUMAN
resolver
uniprot_entry
ETFD_HUMAN
resolver
uniprot_sec
B4E3R9
resolver
uniprot_sec
J3KND9
resolver
uniprot_sec
Q7Z347
resolver
amino_acid_sequence
MLVPLAKLSCLAYQCFHALKIKKNYLPLCATRWSSTSTVPRITTHYTIYPRDKDKRWEGVNMERFAEEADVVIVGAGPAGLSAAVRLKQLAVAHEKDIRVCLVEKAAQIGAHTLSGACLDPGAFKELFPDWKEKGAPLNTPVTEDRFGILTEKYRIPVPILPGLPMNNHGNYIVRLGHLVSWMGEQAEALGVEVYPGYAAAEVLFHDDGSVKGIATNDVGIQKDGAPKATFERGLELHAKVTIFAEGCHGHLAKQLYKKFDLRANCEPQTYGIGLKELWVIDEKNWKPGRVDHTVGWPLDRHTYGGSFLYHLNEGEPLVALGLVVGLDYQNPYLSPFREFQRWKHHPSIRPTLEGGKRIAYGARALNEGGFQSIPKLTFPGGLLIGCSPGFMNVPKIKGTHTAMKSGILAAESIFNQLTSENLQSKTIGLHVTEYEDNLKNSWVWKELYSVRNIRPSCHGVLGVYGGMIYTGIFYWILRGMEPWTLKHKGSDFERLKPAKDCTPIEYPKPDGQISFDLLSSVALSGTNHEHDQPAHLTLRDDSIPVNRNLSIYDGPEQRFCPAGVYEFVPVEQGDGFRLQINAQNCVHCKTCDIKDPSQNINWVVPEGGGGPAYNGM
uniprot
proteins
disease_involvement
DISEASE: Glutaric aciduria 2C (GA2C) [MIM:231680]: An autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It is characterized by multiple acyl-CoA dehydrogenase deficiencies resulting in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. {ECO:0000269|PubMed:12359134, ECO:0000269|PubMed:12815589, ECO:0000269|PubMed:16527485, ECO:0000269|PubMed:17412732, ECO:0000269|PubMed:19249206, ECO:0000269|PubMed:20370797}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.5.5.1
uniprot
proteins
function
FUNCTION: Links fatty acid beta-oxidation and amino acid catabolism to the respiratory chain by transferring electrons from the electron transfer flavoprotein (ETF) to ubiquinone. {ECO:0000269|PubMed:12049629}.
uniprot
proteins
mass_dalton
68495
uniprot
proteins
protein_family
ETF-QO/FixC family
uniprot
proteins
pubmed
12049629
uniprot
proteins
pubmed
12359134
uniprot
proteins
pubmed
12815589
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16527485
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17412732
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
19249206
uniprot
proteins
pubmed
20370797
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
8306995
uniprot
proteins
sequence_length
617
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane.
uniprot
proteins