encoded by the BCKDHA gene. BCKDHA is a coding gene that is part of the BCKD complex (branched-chain alpha-keto acid dehydrogenase). BCKDHA was discovered...
16 KB (2,092 words) - 00:13, 8 June 2024
3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring) kinase (EC 2.7.11.4) BCKDK BCKDHA BCKDHB (isocitrate dehydrogenase (NADP+)) kinase (EC 2.7.11.5) IDH2 IDH3A...
46 KB (5,492 words) - 14:52, 20 August 2024
3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring) kinase (EC 2.7.11.4) BCKDK BCKDHA BCKDHB (isocitrate dehydrogenase (NADP+)) kinase (EC 2.7.11.5) IDH2 IDH3A...
65 KB (7,149 words) - 04:45, 26 August 2024
1:180000 in the U.S. 1:176 in Mennonite/Amish communities 1:250000 in Austria BCKDHA, BCKDHB, DBT, DLD Niemann–Pick disease, SMPD1-associated 1,200 cases worldwide...
100 KB (10,254 words) - 15:07, 15 September 2024
HGNC:978 Q9P287 1466 BCDIN3D HGNC:27050 Q7Z5W3 1467 BCHE HGNC:983 P06276 1468 BCKDHA HGNC:986 P12694 1469 BCKDHB HGNC:987 P21953 1470 BCKDK HGNC:16902 O14874...
277 KB (17 words) - 23:17, 27 April 2024
3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring) kinase (EC 2.7.11.4) BCKDK BCKDHA BCKDHB (isocitrate dehydrogenase (NADP+)) kinase (EC 2.7.11.5) IDH2 IDH3A...
3 KB (296 words) - 17:06, 14 September 2023
3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring) kinase (EC 2.7.11.4) BCKDK BCKDHA BCKDHB (isocitrate dehydrogenase (NADP+)) kinase (EC 2.7.11.5) IDH2 IDH3A...
14 KB (1,385 words) - 10:32, 28 April 2024
3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring) kinase (EC 2.7.11.4) BCKDK BCKDHA BCKDHB (isocitrate dehydrogenase (NADP+)) kinase (EC 2.7.11.5) IDH2 IDH3A...
35 KB (3,831 words) - 18:08, 20 August 2024
hyperthermia RYR1 (19q13.2) dominant 1:5,000-100,000 Maple syrup urine disease BCKDHA, BCKDHB, DBT, DLD recessive Marfan syndrome 15q dominant 1:5,000-10,000...
42 KB (983 words) - 10:34, 21 August 2024
3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring) kinase (EC 2.7.11.4) BCKDK BCKDHA BCKDHB (isocitrate dehydrogenase (NADP+)) kinase (EC 2.7.11.5) IDH2 IDH3A...
69 KB (7,803 words) - 11:01, 11 April 2024