| Predicate | Object |
|---|---|
| rdf:type | |
| biopax3:comment |
FUNCTION: The electron transfer flavoprotein serves as a specific electron acceptor for several dehydrogenases, including five acyl- CoA dehydrogenases, glutaryl-CoA and sarcosine dehydrogenase. It transfers the electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (ETF dehydrogenase). COFACTOR: Binds 1 FAD per dimer. SUBUNIT: Heterodimer of an alpha and a beta subunit. SUBCELLULAR LOCATION: Mitochondrion matrix. ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P13804-1; Sequence=Displayed; Name=2; IsoId=P13804-2; Sequence=VSP_043246; Note=No experimental confirmation available; PTM: The N-terminus is blocked. DISEASE: Defects in ETFA are the cause of glutaric aciduria type 2A (GA2A) [MIM:231680]; also known as glutaricaciduria IIA. GA2A is 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. SIMILARITY: Belongs to the ETF alpha-subunit/fixB family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ETFA"; GENE SYNONYMS:ETFA. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.,
SEQUENCE 333 AA; 35080 MW; 2EC6D1ADE68CBDB5 CRC64;
|
| biopax3:xref |
urn:biopax:RelationshipXref:HGNC_HGNC:3481,
urn:biopax:RelationshipXref:NCBI GENE_2108,
urn:biopax:RelationshipXref:REFSEQ_NP_000117,
urn:biopax:RelationshipXref:REFSEQ_NP_001121188,
urn:biopax:UnificationXref:UNIPROT_B4DT43,
urn:biopax:UnificationXref:UNIPROT_P13804,
urn:biopax:UnificationXref:UNIPROT_Q53XN3
|
| biopax3:displayName |
ETFA_HUMAN
|
| biopax3:name |
Alpha-ETF,
ETFA
|
| biopax3:entityFeature | |
| biopax3:organism | |
| biopax3:sequence |
MFRAAAPGQLRRAASLLRFQSTLVIAEHANDSLAPITLNTITAATRLGGEVSCLVAGTKCDKVAQDLCKVAGIAKVLVAQHDVYKGLLPEELTPLILATQKQFNYTHICAGASAFGKNLLPRVAAKLEVAPISDIIAIKSPDTFVRTIYAGNALCTVKCDEKVKVFSVRGTSFDAAATSGGSASSEKASSTSPVEISEWLDQKLTKSDRPELTGAKVVVSGGRGLKSGENFKLLYDLADQLHAAVGASRAAVDAGFVPNDMQVGQTGKIVAPELYIAVGISGAIQHLAGMKDSKTIVAINKDPEAPIFQVADYGIVADLFKVVPEMTEILKKK
|
| biopax3:standardName |
Electron transfer flavoprotein subunit alpha, mitochondrial
|