Gene: [02p23/HADHA] trifunctional protein, mitochondrial, alpha subunit; 3-hydroxyacyl-CoA dehydrogenase, long chain (EC:1.1.1.35); enoyl-CoA hydratase, long chain (EC:4.2.1.7); gastrin binding protein; long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency with maternal acute fatty liver of pregnancy; trifunctional protein deficiency, type 1 (due to deficiency of alpha subunit);
FAG | On beta subunit see GEM:02p23/HADHB. |
FUN | Trifunctional protein catalyzes 3 steps in mitochondrial beta-oxidation of fatty acids." |
PSG | GEM:00.0/HADHAP. |
REL | GEM:0Xp1121/HADH2. |
REF | MUT "Brackett JC &: J
Clin Invest, 95, 2076-2082, 1995 LOC,CYG "Craig I &: CCG, 16, (HGM3), 114-117, 1976 PAT "Dionisi-Vici C &: J Pediatr, 129, 159-162, 1996 FUN,MEB "El-Fakhri, Middleton: BBA, 713, 270-279, 1988 LOC,MUT "IJlst L &: J Clin Invest, 98, 1028-1033, 1996 MUT "IJlst L &: BBA, 1215, 347-350, 1994 MUT "Isaacs JD &: Pediatr Res, 40, 393-398, 1996 CLO,SEQ,STR "Kamijo T &: BBRC, 199, 818-825, 1994 MUT "Sims HF &: PNAS, 92, 841-845, 1995 MUT "Ushikubo S &: AJHG, 58, 979-988, 1996 LOC "Yang B-Z &: Genomics, 37, 141-143, 1996 CLO,SEQ,STR "Zhang QX &: BBA, 1219, 567-575, 1994 |
SWI | SWISSPROT: P40939 |
KEY | lip, mito, mtbd |
CLA | coding, basic |
LOC | 02 p23 |
MIM | MIM: 600890 |
EZN | ENZYME: 1.1.1.35 |
