Gene: [11p13/PDX1] pyruvate dehydrogenase complex, lipoyl-containing component X; protein X; lacticacidemia (due to defect in lipoyl-containing component X of pyruvate dehydrogenase complex deficiency);


REF

CLO,SEQ,STR,LOC,MUT "Aral B &: AJHG, 61, N6, 1318-1326, 1997
CLO,SEQ,STR,LOC,MUT "Ling M &: Hum Mol Genet, 7, N3, 501-505, 1998

CLA

coding, basic

LOC

11 p13

MIM

MIM: 245349