Gene: [19q134/ETFB] electron transfer flavoprotein, beta polypeptide; glutaricaciduria IIB (ETF-beta deficiency);
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FUN |
Electron transfer flavoprotein participates in the unsaturated fatty acid beta-oxidation, together 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)." |
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FAG |
Gene for the electron transfer flavoprotein alpha subunit is cloned and mapped to chr 15q: GEM:15q2/ETFA." |
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PAT |
There are no hereditary diseases identified that are directly linked to mutations of the gene ETFB. However, one may assume that this locus, as well as the electron transfer flavoprotein alpha subunit gene, is related with a defect of mitochondrial fatty acid beta-oxidation, glutaric aciduria IIB or multiple acyl-CoA dehydrogenase deficiency (Ikeda-1986; see also GEM:15q2/ETFA." |
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HET |
[1] The classification of multiple clinical genetic types of
disturbances of the mitochondrialfatty acid beta-oxidation is
difficult. Some of them are described in GEM:01p31/ACADM.
[2] On the clinical genetic types of glutaric aciduria, see GEM:0X^/ACADX." |
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REF |
LOC "Antonacci R &: Genomics, 19, 177-179, 1994 MUT "Colombo I &: Hum Mol Genet, 3, 429-435, 1994 CLO,SEQ,STR "Finocchiaro G &: Eur J Biochem, 213, 1003-1008, 1993 COD,LOC "Finocchiaro G &: AJHG, 45, A185, 1989 POL "Royal V &: NAR, 19, 14-14, 1991 REV,MEB,PAT,FAG "Tanaka K &: Enzyme, 38, 91-107, 1987 PAT,MEB "Yamaguchi &: Pediatr Res, 29, 60-63, 1991a PAT,PND "Yamaguchi &: Pediatr Res, 30, 439-443, 1991b PAT,MEB "Yamaguchi &: J Inherit Metab Dis, 13, 783-786, 1990 |
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KEY |
mito, lip, mtbd |
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CLA |
coding, basic |
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LOC |
19 q13.4 |
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MIM |
MIM: 130410 |
