Gene: [15q2/ETFA] electron-transferring-flavoprotein, alpha polypeptide; glutaricaciduria IIA (ETF-alpha deficiency); ethylmalonic-adipicaciduria (glutaric aciduria IIA); multiple acyl-CoA dehydrogenase deficiency (MADD); [GA2A EMA MADD ]

FUN	Electron transfer flavoprotein participates in beta-oxidation of unsaturated fatty acids, along with various acyl-CoA reductases (serves as a specific electron acceptor for them). It transfers the electrons to the main mitochondrial respiratory chain via ETF dehydrogenase (see 04q3/ETFDH)."
MOP	Electron-transferring-flavoprotein is a heterodimer of alpha and beta subunit (see GEM:19q134/ETFB)."
CAG	[1] On glutaricaciduria I see GEM:19p132/GCDH. [2] There are three forms of glutaricaciduria II: IIA - due to ETF alpha deficiency (this gene) IIB - due to ETF beta deficiency (GEM:19q134/ETFB), and IIC - due to ETF dehydrogenase deficiency (GEM:04q3/ETFDH)."
HET	[1] Numerous clinical genetic forms of disturbances of mitochondrial fatty acid beta-oxidation are difficult to classify. Some of them are described in GEM:01p31/ACADM. [2] On clinical genetic forms of glutaric aciduria and on X-linked multiple acyl-CoA dehydrogenase deficiency, which is thought to be determined by the X-linked enzyme deficiency, see GEM:0X^/ACADX."
REF	PHE,PAT,MEB,FOG "Amendt, Rhead: J Clin Invest, 78, 205-213, 1986 PRO,LOC,FAG "Barton &: CCG, 46, (HGM9), 577-578, 1987 PRO,COD,SEQ,LOC "Finocchiario G &: JBC, 263, 15773-15780, 1988 PRO,LOC "Finocchiario G &: AJHG, 41, A214, 1987 MUT "Freneaux E &: J Clin Invest, 90, 1679-1686, 1992 PHE,PAT,MEB,FOG "Goodman &: Pediatr Res, 14, 12-17, 1980 REV,PAT "Gregersen N: Scand J Clin Lab Invest, 45, (Suppl 174), 1-60, 1985 PHE,PAT,MEB,FOG "Ikeda &: Pediatr Res, 19, 249A, 1985 MUT "Indo Y &: AJHG, 49, 575-580, 1991 PND "Jacobs &: Eur J Pediatr, 141, 153-157, 1984 PHE,PAT,MEB,FOG "Mantagos &: J Clin Invest, 64, 1580-1589, 1979 PHE,PAT,MEB,FOG "Moon, Rhead: J Clin Invest, 79, 59-64, 1987 PHE,PAT,MEB,FOG "Przyrembel &: Clin Chim Acta, 66, 227-239, 1976 REV,MEB,PAT,FAG "Tanaka K &: Enzyme, 38, 91-107, 1987
SWI	SWISSPROT: P13804
KEY	mtbd, lip, mito
CLA	coding, basic
LOC	15 q23-25
MIM	MIM: 231680
SYN	GA2A EMA MADD

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