Tissue expression
Cell line expression
Protein structure
BCKDHB
Branched chain keto acid dehydrogenase E1 subunit betaThis 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]
Top validated antibodies |
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antibodies-online | ![]() |
4 references | Polyclonal |
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Proteintech Group | ![]() |
6 references | Polyclonal |
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Abgent | ![]() |
Polyclonal |
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Acris Antibodies GmbH | ![]() |
Polyclonal |
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NSJ Bioreagents | ![]() |
Polyclonal |
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