RecName: Full=2-oxoisovalerate dehydrogenase subunit alpha, mitochondr - Protein

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In silico prediction of the pathogenic effect of a novel variant of BCKDHA leading to classical maple syrup urine disease identified using clinical exome sequencing. [Clin Chim Acta. 2018]
In silico prediction of the pathogenic effect of a novel variant of BCKDHA leading to classical maple syrup urine disease identified using clinical exome sequencing.
Fernández-Lainez C, Aláez-Verson C, Ibarra-González I, Enríquez-Flores S, Carrillo-Sanchez K, Flores-Lagunes L, Guillén-López S, Belmont-Martínez L, Vela-Amieva M. Clin Chim Acta. 2018 Aug; 483:33-38. Epub 2018 Apr 16.
Integration of targeted sequencing and NIPT into clinical practice in a Chinese family with maple syrup urine disease. [Genet Med. 2014]
Integration of targeted sequencing and NIPT into clinical practice in a Chinese family with maple syrup urine disease.
You Y, Sun Y, Li X, Li Y, Wei X, Chen F, Ge H, Lan Z, Zhu Q, Tang Y, et al. Genet Med. 2014 Aug; 16(8):594-600. Epub 2014 Mar 6.
Identification of a novel homozygous mutation (S144I) in a Malay patient with maple syrup urine disease. [J Pediatr Endocrinol Metab. 2013]
Identification of a novel homozygous mutation (S144I) in a Malay patient with maple syrup urine disease.
Ali EZ, Yunus ZM, Desa NM, Hock NL. J Pediatr Endocrinol Metab. 2013; 26(9-10):975-80.

RefSeq genomic sequence
See the genomic reference sequence for the BCKDHA gene (NG_013004.1).
RefSeq protein isoforms
See 2 reference sequence protein isoforms for the BCKDHA gene.

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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
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reagents [ExactAntigen/Labome]
reagents
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Evolutionary Trace of Functional Site

RecName: Full=2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial; AltNa...
RecName: Full=2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial; AltName: Full=Branched-chain alpha-keto acid dehydrogenase E1 component alpha chain; Short=BCKDE1A; Short=BCKDH E1-alpha; Flags: Precursor
gi|548403|sp|P12694.2|ODBA_HUMAN

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