-
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...
- 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-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...
-
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...
- 1:180000 in the U.S. 1:176 in Mennonite/Amish
communities 1:250000 in
Austria BCKDHA, BCKDHB, DBT, DLD Niemann–Pick disease, SMPD1-****ociated 1,200
cases worldwide...
- 19q13.12 HAMP:
Hepcidin antimicrobial peptide. Gene map
locus 19q13.12
BCKDHA:
Branched chain keto acid
dehydrogenase E1,
alpha polypeptide (maple syrup...
- 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...
- immediately.
Mutations in the
following genes cause maple syrup urine disease:
BCKDHA (OMIM: 608348)
BCKDHB (OMIM: 248611) DBT (OMIM: 248610) DLD (OMIM: 238331)...
- 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-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...
