Gene: [22q133/CPT1B] carnitine palmitoyltransferase I, muscle;
|
REF |
LOC "Britton CH &: Genomics, 40, N1, 209-211, 1997 CLO,SEQ,GEN,LOC "van der Leij FR &: BBA, 1352, 123-128, 1997 CLO,SEQ "Yamazaki N &: BBA, 1307, 157-161, 1996 |
|
CLA |
coding, basic |
|
LOC |
22 q13.3 |
|
MIM |
MIM: 601987 |
|
EZN |
ENZYME: 2.3.1.21 |
Ссылки:
- Gene: [01p32/CPT2] carnitine palmitoyltransferase II (deficiency: myopathy); myopathy with deficiency of carnitine palmitoyltransferase II (mild late-onset myopathic form; MIM:255110); hypoglycemia, hypoketotic, with deficiency of carnitine
- Gene: [11q13/CPT1A] carnitine palmitoyltransferase I, liver; hypoglycemia, hypoketotic (deficiency of carnitine palmitoyltransferase I; MIM:255120);
