-
subunit beta,
mitochondrial is an
enzyme that in
humans is
encoded by the
BCKDHB gene. Branched-chain keto acid
dehydrogenase is a
multienzyme complex ****ociated...
- 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...
- 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 SMPD1...
-
dehydrogenase (acetyl-transferring)
kinase (EC 2.7.11.4)
BCKDK BCKDHA BCKDHB (isocitrate
dehydrogenase (NADP+))
kinase (EC 2.7.11.5) IDH2 IDH3A IDH3B...
-
following genes cause maple syrup urine disease:
BCKDHA (OMIM: 608348)
BCKDHB (OMIM: 248611) DBT (OMIM: 248610) DLD (OMIM: 238331)
These four
genes produce...
-
dehydrogenase (acetyl-transferring)
kinase (EC 2.7.11.4)
BCKDK BCKDHA BCKDHB (isocitrate
dehydrogenase (NADP+))
kinase (EC 2.7.11.5) IDH2 IDH3A IDH3B...
-
dehydrogenase (acetyl-transferring)
kinase (EC 2.7.11.4)
BCKDK BCKDHA BCKDHB (isocitrate
dehydrogenase (NADP+))
kinase (EC 2.7.11.5) IDH2 IDH3A IDH3B...
- HGNC:27050 Q7Z5W3 1466 BCHE HGNC:983 P06276 1467
BCKDHA HGNC:986 P12694 1468
BCKDHB HGNC:987 P21953 1469
BCKDK HGNC:16902 O14874 1470 BCL2 HGNC:990 P10415 1471...
-
dehydrogenase (acetyl-transferring)
kinase (EC 2.7.11.4)
BCKDK BCKDHA BCKDHB (isocitrate
dehydrogenase (NADP+))
kinase (EC 2.7.11.5) IDH2 IDH3A IDH3B...
- 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...
