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BCKDHB

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Identifiers
SymbolsBCKDHB ; E1B; dJ279A18.1
External IDsOMIM248611 MGI88137 HomoloGene39 GeneCards: BCKDHB Gene
EC number1.2.4.4
RNA expression pattern
File:PBB GE BCKDHB 210653 s at tn.png
File:PBB GE BCKDHB 213321 at tn.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez59412040
EnsemblENSG00000083123ENSMUSG00000032263
UniProtP21953Q6P3A8
RefSeq (mRNA)NM_000056NM_199195
RefSeq (protein)NP_000047NP_954665
Location (UCSC)Chr 6:
80.82 – 81.06 Mb
Chr 9:
83.93 – 84.12 Mb
PubMed search[1][2]

2-Oxoisovalerate dehydrogenase subunit beta, mitochondrial is an enzyme that in humans is encoded by the BCKDHB gene.[1]

Function

Branched-chain keto acid dehydrogenase is a multienzyme complex associated with the inner membrane of mitochondria, and functions in the catabolism of branched-chain amino acids. The complex consists of multiple copies of 3 components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2), and lipoamide dehydrogenase (E3). This gene encodes the E1 beta subunit, and mutations therein have been associated with maple syrup urine disease (MSUD), type 1B. Alternative splicing at this locus results in transcript variants with different 3' noncoding regions, but encoding the same isoform.[1]

References

Further reading

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