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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 |
|
