BCKDHB

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BCKDHB
Protein BCKDHB PDB 1dtw.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases BCKDHB, E1B, dJ279A18.1, BCKDE1B, BCKDH E1-beta, branched chain keto acid dehydrogenase E1, beta polypeptide
External IDs MGI: 88137 HomoloGene: 39 GeneCards: 594
RNA expression pattern
PBB GE BCKDHB 210653 s at tn.png

PBB GE BCKDHB 213321 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000056
NM_183050
NM_001318975

NM_199195
NM_001305935

RefSeq (protein)

NP_000047.1
NP_898871.1
NP_001305904.1

NP_001292864.1
NP_954665.1

Location (UCSC) Chr 6: 80.11 – 80.35 Mb Chr 9: 83.93 – 84.12 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

2-Oxoisovalerate dehydrogenase subunit beta, mitochondrial is an enzyme that in humans is encoded by the BCKDHB gene.[3]

Function[edit]

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.[3]

References[edit]

Further reading[edit]