Electron Transfer Flavoprotein Beta Polypeptide (ETFb)

ETF-B; MADD; FP585

SPN	V196
HGNC	3482
MGI	106098
PubMed	21903359
RGD	1303312
UniProt	P38117
Wiki	ETFB

Defects in ETFB are a cause of multiple acyl-CoA dehydrogenase deficiency (MADD); also known as glutaricaciduria IIB and glutaric aciduria IIB (GAIIB). Glutaric aciduria II (GAII) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism.

GAIIB results in the excretion not only of glutaric acid but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. It is seen in its most severe form in infancy, with polycystic and dysplastic kidneys, hypoketotic acidosis and hypoglycemia that can lead to death. The milder form can be characterized by recurrent episodes of lasting lethargy or slowly progressive myopathy.

Reference

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Eur. J. Biochem. 213:1003-1008(1993) [PubMed] [Europe PMC] [Abstract]

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Hum. Mutat. 22:12-23(2003) [PubMed] [Europe PMC] [Abstract]

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Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"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. 3:429-435(1994) [PubMed] [Europe PMC] [Abstract]

"Initial characterization of the human central proteome."
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"Human METTL20 methylates lysine residues adjacent to the recognition loop of the electron transfer flavoprotein in mitochondria."
J. Biol. Chem. 289:24640-24651(2014) [PubMed] [Europe PMC] [Abstract]

"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]

"Three-dimensional structure of human electron transfer flavoprotein to 2.1-A resolution."
Proc. Natl. Acad. Sci. U.S.A. 93:14355-14360(1996) [PubMed] [Europe PMC] [Abstract]

"Extensive domain motion and electron transfer in the human electron transferring flavoprotein.medium chain acyl-CoA dehydrogenase complex."
J. Biol. Chem. 279:32904-32912(2004) [PubMed] [Europe PMC] [Abstract]

"Stabilization of non-productive conformations underpins rapid electron transfer to electron-transferring flavoprotein."
J. Biol. Chem. 280:30361-30366(2005) [PubMed] [Europe PMC] [Abstract]

"A polymorphic variant in the human electron transfer flavoprotein alpha-chain (alpha-T171) displays decreased thermal stability and is overrepresented in very-long-chain acyl-CoA dehydrogenase-deficient patients with mild childhood presentation."
Mol. Genet. Metab. 67:138-147(1999) [PubMed] [Europe PMC] [Abstract]