Entity Details

Primary name ETFA_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP13804
EntryNameETFA_HUMAN
FullNameElectron transfer flavoprotein subunit alpha, mitochondrial
TaxID9606
Evidenceevidence at protein level
Length333
SequenceStatuscomplete
DateCreated1990-01-01
DateModified2021-06-02

Ontological Relatives

GenesETFA

GO terms

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GOName
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0009055 electron transfer activity
GO:0016491 oxidoreductase activity
GO:0022904 respiratory electron transport chain
GO:0033539 fatty acid beta-oxidation using acyl-CoA dehydrogenase
GO:0050660 flavin adenine dinucleotide binding

Subcellular Location

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Subcellular Location
Mitochondrion matrix

Domains

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DomainNameCategoryType
IPR001308 Electron transfer flavoprotein alpha subunit/FixBFamilyFamily
IPR014729 Rossmann-like alpha/beta/alpha sandwich foldFamilyHomologous superfamily
IPR014730 Electron transfer flavoprotein, alpha/beta-subunit, N-terminalDomainDomain
IPR014731 Electron transfer flavoprotein, alpha subunit, C-terminalDomainDomain
IPR018206 Electron transfer flavoprotein subunit alpha, conserved siteSiteConserved site
IPR029035 DHS-like NAD/FAD-binding domain superfamilyFamilyHomologous superfamily
IPR033947 Electron transfer flavoprotein, alpha subunit, N-terminalDomainDomain

Diseases

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Disease IDSourceNameDescription
231680 OMIMGlutaric aciduria 2A (GA2A)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. The disease is caused by variants affecting the gene represented in this entry.