Difference between revisions of "BCKDHB"

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== Function ==
 
== Function ==
  
Branched-chain keto acid dehydrogenase is a [[multienzyme]] complex associated with the inner membrane of [[Mitochondrion|mitochondria]], and functions in the [[catabolism]] of branched-chain [[amino acid]]s. 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.<ref name="entrez" />
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[[Branched-chain alpha-keto acid dehydrogenase complex|Branched-chain keto acid dehydrogenase]] is a [[multienzyme complex]] associated with the [[Inner mitochondrial membrane|inner membrane of mitochondria]], and functions in the [[catabolism]] of [[branched-chain amino acid]]s. 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' [[Non-coding DNA|noncoding regions]], but encoding the same [[Protein isoform|isoform]].<ref name="entrez" />
  
 
==References==
 
==References==
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[[Category:EC 1.2.4]]
 
[[Category:EC 1.2.4]]
 
[[Category:EC 2.7.11]]
 
[[Category:EC 2.7.11]]
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[[Category:Mitochondrial proteins]]
  
  
 
{{gene-6-stub}}
 
{{gene-6-stub}}

Latest revision as of 16:11, 18 October 2018

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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

  1. 1.0 1.1 "Entrez Gene: BCKDHB branched chain keto acid dehydrogenase E1, beta polypeptide (maple syrup urine disease)".

External links

Further reading



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