1efv
From Proteopedia
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{{STRUCTURE_1efv| PDB=1efv | SCENE= }} | {{STRUCTURE_1efv| PDB=1efv | SCENE= }} | ||
| + | ===THREE-DIMENSIONAL STRUCTURE OF HUMAN ELECTRON TRANSFER FLAVOPROTEIN TO 2.1 A RESOLUTION=== | ||
| + | {{ABSTRACT_PUBMED_8962055}} | ||
| - | === | + | ==Disease== |
| + | [[http://www.uniprot.org/uniprot/ETFA_HUMAN ETFA_HUMAN]] Defects in ETFA are the cause of glutaric aciduria type 2A (GA2A) [MIM:[http://omim.org/entry/231680 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.<ref>PMID:1882842</ref><ref>PMID:1430199</ref> [[http://www.uniprot.org/uniprot/ETFB_HUMAN ETFB_HUMAN]] Defects in ETFB are the cause of glutaric aciduria type 2B (GA2B) [MIM:[http://omim.org/entry/231680 231680]]. GA2B 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.<ref>PMID:12815589</ref><ref>PMID:7912128</ref> | ||
| + | ==Function== | ||
| + | [[http://www.uniprot.org/uniprot/ETFA_HUMAN ETFA_HUMAN]] 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). [[http://www.uniprot.org/uniprot/ETFB_HUMAN ETFB_HUMAN]] 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). | ||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
| - | <ref group="xtra">PMID:008962055</ref><references group="xtra"/> | + | <ref group="xtra">PMID:008962055</ref><references group="xtra"/><references/> |
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Frerman, F E.]] | [[Category: Frerman, F E.]] | ||
Revision as of 00:15, 25 March 2013
Contents |
THREE-DIMENSIONAL STRUCTURE OF HUMAN ELECTRON TRANSFER FLAVOPROTEIN TO 2.1 A RESOLUTION
Template:ABSTRACT PUBMED 8962055
Disease
[ETFA_HUMAN] 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.[1][2] [ETFB_HUMAN] Defects in ETFB are the cause of glutaric aciduria type 2B (GA2B) [MIM:231680]. GA2B 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.[3][4]
Function
[ETFA_HUMAN] 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). [ETFB_HUMAN] 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).
About this Structure
1efv is a 2 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
Reference
- Roberts DL, Frerman FE, Kim JJ. Three-dimensional structure of human electron transfer flavoprotein to 2.1-A resolution. Proc Natl Acad Sci U S A. 1996 Dec 10;93(25):14355-60. PMID:8962055
- ↑ Indo Y, Glassberg R, Yokota I, Tanaka K. Molecular characterization of variant alpha-subunit of electron transfer flavoprotein in three patients with glutaric acidemia type II--and identification of glycine substitution for valine-157 in the sequence of the precursor, producing an unstable mature protein in a patient. Am J Hum Genet. 1991 Sep;49(3):575-80. PMID:1882842
- ↑ Freneaux E, Sheffield VC, Molin L, Shires A, Rhead WJ. Glutaric acidemia type II. Heterogeneity in beta-oxidation flux, polypeptide synthesis, and complementary DNA mutations in the alpha subunit of electron transfer flavoprotein in eight patients. J Clin Invest. 1992 Nov;90(5):1679-86. PMID:1430199 doi:http://dx.doi.org/10.1172/JCI116040
- ↑ Olsen RK, Andresen BS, Christensen E, Bross P, Skovby F, Gregersen N. Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency. Hum Mutat. 2003 Jul;22(1):12-23. PMID:12815589 doi:10.1002/humu.10226
- ↑ Colombo I, Finocchiaro G, Garavaglia B, Garbuglio N, Yamaguchi S, Frerman FE, Berra B, DiDonato S. Mutations and polymorphisms of the gene encoding the beta-subunit of the electron transfer flavoprotein in three patients with glutaric acidemia type II. Hum Mol Genet. 1994 Mar;3(3):429-35. PMID:7912128
