Gene: [07q3/DLD] lipoamide dehydrogenase; lactoacidosis due to lipoamide dehydrogenase deficiency;


COM

Lipoamide dehydrogenase had another code, EC:1.6.4.3, until 1983. Now it corresponds to diaphorase 4 (GEM:16q221/NMOR1(DIA4))."

GEN

Two transcripts have been found: 2.2 and 2.4 kb. cDNA contains a 3'-untranslated region with an unusual polyadenylation signal, TATAAA, and a short poly(A) sequence."

FUN

[1] Systematic name: dihydrolipoamide:NAD+ oxidoreductase.
[2] The reaction catalyzed: dihydrolipoamide + NAD+ = lipoamide + NADH.
[3] The lipoamide dehydrogenase is a component of three multi-enzyme complexes: piruvate dehydrogenase, alpha-ketoglutarate dehydrogenase and branched-chain alpha-ketoacid dehydrogenase."

MOP

The product is a homodimer; MM of a subunit is 55 kD (474 amino acids); the protein precursor consists of 509 amino acid residues."

REF

PRO,LOC,MOL "Otulakowski G &: Somat Cell Mol Genet, 14, 411-414, 1988
SEQ "Otulakowski G, Robinson: JBC, 262, 17313-17318, 1987
CLO,SEQ,MOP,CAG "Pons G &: PNAS, 85, 1422-1426, 1988
PRO,LOC "Scherer SW &: CCG, 56, N3-4, 176-177, 1991

SWI

SWISSPROT: P09622

KEY

mtbd, lip, mito

CLA

coding, basic

LOC

07 q31-32

MIM

MIM: 246900

EZN

ENZYME: 1.8.1.4

Смотрите также:

  • Gene: [19q132/BCKDE1A] 2-oxoisovalerate dehydrogenase (lipoamide), alpha polypeptide; branched chain keto acid dehydrogenase E1, alpha polypeptide; maple syrup urine disease (due to BCK-E1-alpha deficiency);
  • MSUD.Локализация генов
  • дигидролипоамиддегидрогеназа-HUGEN