Gene: [01p31/BCKDE2] dihydrolipoamide branched chain transacylase (E2 component of BCKD); branched chain keto acid dehydrogenase, E2 component; maple syrup urine disease (due to BCK-E2 deficiency);
|
FUN |
See GEM:19q132/BCKDE1A. |
|
REF |
STR,MOP,MUT,MOL "Chuang DT &: Mol Biol Med, 8, 49-63, 1991 PAT,EXP,MUT,MOL "Fisher CW &: BBRC, 174, 804-809, 1991 PRO,LOC,PAT,MUT "Herring WJ &: AJHG, 48, N2, 342-350, 1991 LOC "Lau KS &: CCG, 56, N1, 33-35, 1991 LOC "Zneimer SM &: Genomics, 10, N3, 740-747, 1991 |
|
KEY |
neu, mtbd, aac, lip, mito |
|
CLA |
coding, basic |
|
LOC |
01 p31 |
|
MIM |
MIM: 248610 |
|
EZN |
ENZYME: 2.3.1.? |
Смотрите также:
