RecName: Full=2-oxoisovalerate dehydrogenase subunit beta, mitochondri - Protein

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Neonatal maple syrup urine disease in China: two novel mutations in the BCKDHB gene and literature review. [J Pediatr Endocrinol Metab. 2021]
Neonatal maple syrup urine disease in China: two novel mutations in the BCKDHB gene and literature review.
Jiang HH, Guo Y, Shen X, Wang Y, Dai TT, Rong H, Cheng R, Zhao F. J Pediatr Endocrinol Metab. 2021 Sep 27; 34(9):1147-1156. Epub 2021 Jun 30.
Identification of novel mutations in BCKDHB and DBT genes in Vietnamese patients with maple sirup urine disease. [Mol Genet Genomic Med. 2020]
Identification of novel mutations in BCKDHB and DBT genes in Vietnamese patients with maple sirup urine disease.
Nguyen TTN, Vu CD, Nguyen NL, Nguyen TTH, Nguyen NK, Nguyen HH. Mol Genet Genomic Med. 2020 Aug; 8(8):e1337. Epub 2020 Jun 9.
[Mutation analysis and prenatal diagnosis for a pedigree affected with maple syrup urine disease]. [Zhonghua Yi Xue Yi Chuan Xue Z...]
[Mutation analysis and prenatal diagnosis for a pedigree affected with maple syrup urine disease].
Mei S, Bai N, Hu S, Liu N, Zhao Z, Kong X. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Oct 10; 35(5):679-682.

RefSeq genomic sequence
See the genomic reference sequence for the BCKDHB gene (NG_009775.3).
RefSeq protein isoforms
See 25 reference sequence protein isoforms for the BCKDHB gene.

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P21953 [Domain Mapping of Disease Mut...]
P21953
Domain Mapping of Disease Mutations
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF) [MODBASE, Database of Comparat...]
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF)
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
Reactome [Reactome]
Reactome
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome
Evolutionary Trace of Functional Site [Evolutionary Trace of Functio...]
Evolutionary Trace of Functional Site

RecName: Full=2-oxoisovalerate dehydrogenase subunit beta, mitochondrial; AltNam...
RecName: Full=2-oxoisovalerate dehydrogenase subunit beta, mitochondrial; AltName: Full=Branched-chain alpha-keto acid dehydrogenase E1 component beta chain; Short=BCKDE1B; Short=BCKDH E1-beta; Flags: Precursor
gi|129034|sp|P21953.2|ODBB_HUMAN

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