• Thumbnail for BCKDHB
    subunit beta, mitochondrial is an enzyme that in humans is encoded by the BCKDHB gene. Branched-chain keto acid dehydrogenase is a multienzyme complex associated...
    8 KB (1,007 words) - 16:11, 10 March 2024
  • Thumbnail for Human genome
    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 SMPD1...
    99 KB (10,151 words) - 19:49, 15 April 2024
  • 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 Maroteaux–Lamy...
    42 KB (969 words) - 16:02, 3 April 2024
  • Thumbnail for AMP-activated protein kinase
    dehydrogenase (acetyl-transferring) kinase (EC 2.7.11.4) BCKDK BCKDHA BCKDHB (isocitrate dehydrogenase (NADP+)) kinase (EC 2.7.11.5) IDH2 IDH3A IDH3B...
    64 KB (7,058 words) - 23:58, 14 February 2024
  • Thumbnail for Maple syrup urine disease
    following genes cause maple syrup urine disease: BCKDHA (OMIM: 608348) BCKDHB (OMIM: 248611) DBT (OMIM: 248610) DLD (OMIM: 238331) These four genes produce...
    29 KB (3,409 words) - 01:43, 2 March 2024
  • dehydrogenase (acetyl-transferring) kinase (EC 2.7.11.4) BCKDK BCKDHA BCKDHB (isocitrate dehydrogenase (NADP+)) kinase (EC 2.7.11.5) IDH2 IDH3A IDH3B...
    3 KB (296 words) - 17:06, 14 September 2023
  • Thumbnail for C-Jun N-terminal kinases
    dehydrogenase (acetyl-transferring) kinase (EC 2.7.11.4) BCKDK BCKDHA BCKDHB (isocitrate dehydrogenase (NADP+)) kinase (EC 2.7.11.5) IDH2 IDH3A IDH3B...
    14 KB (1,626 words) - 23:36, 8 August 2023
  • dehydrogenase (acetyl-transferring) kinase (EC 2.7.11.4) BCKDK BCKDHA BCKDHB (isocitrate dehydrogenase (NADP+)) kinase (EC 2.7.11.5) IDH2 IDH3A IDH3B...
    14 KB (1,385 words) - 20:33, 24 January 2024
  • Thumbnail for Chromosome 6
    Androgen-induced protein 1 (6q24.2) AKIRIN2: akirin 2 (6q15) ARG1: arginase 1 (6q23.2) BCKDHB: branched-chain keto acid dehydrogenase E1, beta polypeptide (maple syrup...
    35 KB (2,422 words) - 03:37, 10 March 2024
  • Thumbnail for MTORC1
    dehydrogenase (acetyl-transferring) kinase (EC 2.7.11.4) BCKDK BCKDHA BCKDHB (isocitrate dehydrogenase (NADP+)) kinase (EC 2.7.11.5) IDH2 IDH3A IDH3B...
    69 KB (7,803 words) - 11:01, 11 April 2024