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Metazoan complexes |
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H.sapiens
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Details of PDHB gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| PDHB | PHE1B | P11177 | ODPB_HUMAN | 5162 | ENSG00000168291 | Pyruvate dehydrogenase E1 component subunit beta, mitochondrial | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Pyruvate dehydrogenase E1-beta deficiency (PDHBD) [MIM:614111]: An enzymatic defect causing primary lactic acidosis in children. It is associated with a broad clinical spectrum ranging from fatal lactic acidosis in the newborn to chronic neurologic dysfunction with structural abnormalities in the central nervous system without systemic acidosis. Note=The disease is caused by mutations affecting the gene represented in this entry. ----------------------------------------------------------------------- Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms Distributed under the Creative Commons Attribution-NoDerivs License ----------------------------------------------------------------------- | 614111 | ||||||||
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Pdhb | CG11876 | C04C3.3 | --- | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| PDHB | PDHA2 | 0.99998759 | PDHB | PDHA2 | cpx292 | no | yes | yes | Known |
| PDHB | PDHA1 | 1 | PDHB | PDHA1 | cpx292 | no | yes | yes | Known |
| DLAT | PDHB | 0.328006809 | DLAT | PDHB | cpx292 | no | yes | yes | Known |