| ncRNA Symbol: | BCKDHB |
| Full Name: | branched chain keto acid dehydrogenase E1 subunit beta |
| Category: | mRNA |
| Synonyms: | BCKDE1B|BCKDH E1-beta|E1B |
| Chromosome: | chr6 |
| Strand: | + |
| Coordinate: | | Start Site(bp): | 80106647 | End Site(bp): | 80346270 | |
| Gene 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] |
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