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Details of ATP5E gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| ATP5E | --- | P56381 | ATP5E_HUMAN | 514
| ENSG00000124172
| ATP synthase subunit epsilon, mitochondrial | SPROT |
Disease |
|---|
| Disease |
OMIM id |
| Mitochondrial complex V deficiency, nuclear 3 (MC5DN3) [MIM:614053]: A mitochondrial disorder with heterogeneous clinical manifestations including dysmorphic features, psychomotor retardation, hypotonia, growth retardation, cardiomyopathy, enlarged liver, hypoplastic kidneys and elevated lactate levels in urine, plasma and cerebrospinal fluid. Note=The disease is caused by mutations affecting the gene represented in this entry. |
614053 |
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
|
