| ncRNA Symbol: | PDHB |
| Full Name: | pyruvate dehydrogenase E1 beta subunit |
| Category: | mRNA |
| Synonyms: | PDHBD|PDHE1-B|PDHE1B|PHE1B |
| Chromosome: | chr3 |
| Strand: | - |
| Coordinate: | | Start Site(bp): | 58427630 | End Site(bp): | 58433857 | |
| Gene Summary: | The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and carbon dioxide, and provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle. The PDH complex is composed of multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase (E3). The E1 enzyme is a heterotetramer of two alpha and two beta subunits. This gene encodes the E1 beta subunit. Mutations in this gene are associated with pyruvate dehydrogenase E1-beta deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2012] |
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