Gene Symbol | BCKDHB |
Entrez Gene ID | 594 |
Full Name | branched chain keto acid dehydrogenase E1 subunit beta |
Synonyms | BCKDE1B,BCKDH E1-beta,E1B |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes the E1 beta subunit of branched-chain keto acid dehydrogenase, which is a multienzyme complex associated with the inner membrane of mitochondria. This enzyme complex functions in the catabolism of branched-chain amino acids. Mutations in this gene 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 multiple transcript variants. [provided by RefSeq, Jan 2016]. |
Disorder MIM: | |
Disorder Html: | Maple syrup urine disease, type Ib, 248600 (3) |