BCKDHB
Lua error in Module:Infobox_gene at line 53: attempt to index field 'wikibase' (a nil value). 2-Oxoisovalerate dehydrogenase subunit beta, mitochondrial is an enzyme that in humans is encoded by the BCKDHB gene.[1]
Function
[edit | edit source]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
[edit | edit source]Further reading
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External links
[edit | edit source]- Human BCKDHB genome location and BCKDHB gene details page in the UCSC Genome Browser.
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