BCKDHB

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

Function
Branched-chain keto acid dehydrogenase is a is_associated_with::multienzyme complex associated with the inner membrane of mitochondria, and functions in the is_associated_with::catabolism of branched-chain is_associated_with::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 is_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.