Gene: [19q134/ETFB] electron transfer flavoprotein, beta polypeptide; glutaricaciduria IIB (ETF-beta deficiency);


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)."

FAG

Gene for the electron transfer flavoprotein alpha subunit is cloned and mapped to chr 15q: GEM:15q2/ETFA."

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."

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."

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

KEY

mito, lip, mtbd

CLA

coding, basic

LOC

19 q13.4

MIM

MIM: 130410