Products

Fluorescent In Situ Hybridization (Cell)

Entrez GeneID

Gene Name

BCKDHB

Gene Alias

E1B, FLJ17880, dJ279A18.1

Gene Description

branched chain keto acid dehydrogenase E1, beta polypeptide

Omim ID

Gene Ontology

Gene Summary

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, a disease characterized by a maple syrup odor to the urine in addition to mental and physical retardation, and feeding problems. Alternative splicing at this locus results in transcript variants with different 3' non-coding regions, but encoding the same isoform. [provided by RefSeq

Other Designations

2-oxoisovalerate dehydrogenase beta subunit|E1b-beta subunit of the branched-chain complex|OTTHUMP00000018048|OTTHUMP00000018049|branched chain alpha-ketoacid dehydrogenase E1-beta subunit|branched chain keto acid dehydrogenase E1 beta polypeptide|branche