BCKDHB Products

Description

Branched-chain keto acid dehydrogenase is a multienzyme complex associated with the inner membrane of mitochondria, andfunctions 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 physicalretardation, and feeding problems. Alternative splicing at this locus results in transcript variants with different3' non-coding regions, but encoding the same isoform. (provided by RefSeq)

Bioinformatics

Entrez	594 Human
Uniprot	AAH40139 Human NM_000056 Human NM_183050 Human P21953 Human
Product By Gene ID	594
Alternate Names	2-oxoisovalerate dehydrogenase beta subunit 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial BCKDE1B BCKDH E1-beta branched chain alpha-ketoacid dehydrogenase E1-beta subunit branched chain keto acid dehydrogenase E1, beta polypeptide Branched-chain alpha-keto acid dehydrogenase E1 component beta chain dJ279A18.1 E1B E1b-beta subunit of the branched-chain complex EC 1.2.4.4 FLJ17880