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BCKDHB

Official Full Name
branched chain keto acid dehydrogenase E1 subunit beta
Organism
Homo sapiens
GeneID
594
Background
This gene encodes the E1 beta subunit of branched-chain keto acid dehydrogenase, which is a multienzyme complex associated with the inner membrane of mitochondria. This enzyme complex functions in the catabolism of branched-chain amino acids. Mutations in this gene have been associated with maple syrup urine disease (MSUD), type 1B, a disease characterized by a maple syrup odor to the urine in addition to mental and physical retardation and feeding problems. Alternative splicing at this locus results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Synonyms
E1B; OVD1B; MSUD1B; BCKDE1B; BCKDH E1-beta;

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