BCKDHB

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BCKDHB
Protein BCKDHB PDB 1dtw.png
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesBCKDHB, E1B, dJ279A18.1, BCKDE1B, BCKDH E1-beta, branched chain keto acid dehydrogenase E1, beta polypeptide, branched chain keto acid dehydrogenase E1 subunit beta
External IDsMGI: 88137 HomoloGene: 39 GeneCards: BCKDHB
Gene location (Human)
Chromosome 6 (human)
Chr.Chromosome 6 (human)[1]
Chromosome 6 (human)
Genomic location for BCKDHB
Genomic location for BCKDHB
Band6q14.1Start80,106,647 bp[1]
End80,346,270 bp[1]
RNA expression pattern
PBB GE BCKDHB 213321 at fs.png

PBB GE BCKDHB 210653 s at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000056
NM_183050
NM_001318975

NM_199195
NM_001305935

RefSeq (protein)

NP_000047
NP_001305904
NP_898871

NP_001292864
NP_954665

Location (UCSC)Chr 6: 80.11 – 80.35 MbChr 9: 83.93 – 84.12 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

2-Oxoisovalerate dehydrogenase subunit beta, mitochondrial is an enzyme that in humans is encoded by the BCKDHB gene.[5]

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.[5]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000083123 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000032263 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ a b "Entrez Gene: BCKDHB branched chain keto acid dehydrogenase E1, beta polypeptide (maple syrup urine disease)".

External links[edit]

Further reading[edit]