Gene: [04q3/ETFDH] electron-transferring-flavoprotein dehydrogenase; glutaricaciduria IIC (ETF dehydrogenase deficiency);


HET

See GEM:01p31/ACADM.

REF

MUT "Beard SE &: Clin Res, 41, 271A, 1993
CLO,SEQ "Goodman SI &: Eur J Biochem, 219, 277-286, 1994

SWI

SWISSPROT: Q16134

KEY

mtbd, lip, mito

CLA

coding, basic

LOC

04 q32-35

MIM

MIM: 231675

EZN

ENZYME: 1.5.5.1

Смотрите также:

  • 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 ]