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Summary Expression Phenotypes Gene Literature (1) GO Terms (16) Nucleotides (216) Proteins (49) Interactants (190) Wiki
XB-GENEPAGE-1007471
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 bckdha

???displayGene.name???: 
branched chain keto acid dehydrogenase E1, alpha polypeptide

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( Nomenclature history )

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Branched chain alpha-keto acid dehydrogenase complex, alpha subunit

AI Protein Function :
The bckdha gene encodes a subunit of the branched-chain keto acid dehydrogenase enzyme complex which functions in the catabolism of branched-chain amino acids. This protein localizes to the mitochondri...[+]


InterPro :
DH E1, THDP-binding, Alpha-ketoacid DH E1 comp

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Diseases: 


Disease Ontology:
maple syrup urine disease

MIM:
MAPLE SYRUP URINE DISEASE, TYPE IA; MSUD1A

External Links:
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???displayGene.expression???                  Development Stages                                               Embryonic Tissues                                                                Adult Tissues
More Information
Xenbase Expression Details In situ images Single cell data at SPRING In situ: RNA-Seq:


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