XB-GENEPAGE-1007471
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bckdha
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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
:
bckdha encodes the E1α subunit of the mitochondrial branched‑chain α‑ketoacid dehydrogenase complex, catalyzing the oxidative decarboxylation of the branched‑chain α‑keto acids derived from leucine, is...[+]
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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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